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38 results on '"Michela Figorilli"'

1. Risk Factors for Phenoconversion in <scp>Rapid Eye Movement</scp> Sleep Behavior Disorder

Author

Hui Zhang, Alex Iranzo, Birgit Högl, Isabelle Arnulf, Luigi Ferini‐Strambi, Raffaele Manni, Tomoyuki Miyamoto, Wolfgang H. Oertel, Yves Dauvilliers, Yo‐EI Ju, Monica Puligheddu, Karel Sonka, Amélie Pelletier, Jacques Y. Montplaisir, Ambra Stefani, Abubaker Ibrahim, Birgit Frauscher, Smaranda Leu‐Semenescu, Marco Zucconi, Michele Terzaghi, Masayuki Miyamoto, Annette Janzen, Michela Figorilli, Maria L. Fantini, and Ronald B. Postuma

Subjects
Neurology, Neurology (clinical)
Published
2022

2. NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts

Author

Emma N. Somerville, Lynne Krohn, Eric Yu, Uladzislau Rudakou, Konstantin Senkevich, Jennifer A. Ruskey, Farnaz Asayesh, Jamil Ahmad, Dan Spiegelman, Yves Dauvilliers, Isabelle Arnulf, Michele T.M. Hu, Jacques Y. Montplaisir, Jean-François Gagnon, Alex Desautels, Abubaker Ibrahim, Ambra Stefani, Birgit Högl, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Petr Dusek, Karel Sonka, David Kemlink, Giuseppe Plazzi, Elena Antelmi, Francesco Biscarini, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel-Doring, Michela Figorilli, Monica Puligheddu, Valerie Cochen De Cock, Wolfgang Oertel, Annette Janzen, Luigi Ferini-Strambi, Anna Heibreder, Christelle Charley Monaca, Beatriz Abril, Femke Dijkstra, Mineke Viaene, Bradley F. Boeve, Ronald B. Postuma, Guy A. Rouleau, and Ziv Gan-Or

Subjects
Association study, Aging, General Neuroscience, Dementia with Lewy bodies, Niemann-Pick disease type C, Parkinson’s disease, Neurology (clinical), Geriatrics and Gerontology, REM-sleep behavior disorder, Developmental Biology, NPC1
Published
2023

3. Therapeutic Use of Cerebellar Intermittent Theta Burst Stimulation (iTBS) in a Sardinian Family Affected by Spinocerebellar Ataxia 38 (SCA 38)

Author

Giovanni Defazio, Michela Figorilli, Paolo Follesa, Paolo Tacconi, Mariangela Serra, Monica Puligheddu, Angela Sanna, Viola Cocco, and Maria Giuseppina Pisu

Subjects
medicine.medical_specialty, Neurology, Cerebellar Ataxia, medicine.medical_treatment, Stimulation, medicine, Humans, Spinocerebellar Ataxias, Brain-derived neurotrophic factor, Cross-Over Studies, Neuronal Plasticity, Cerebellar ataxia, business.industry, Brain-Derived Neurotrophic Factor, Evoked Potentials, Motor, medicine.disease, Transcranial Magnetic Stimulation, Transcranial magnetic stimulation, medicine.anatomical_structure, Spinocerebellar ataxia, Ataxia, International Cooperative Ataxia Rating Scale, Neurology (clinical), medicine.symptom, business, Neuroscience, Motor cortex
Abstract

Spinocerebellar ataxia 38 (SCA 38) is an autosomal dominant disorder caused by conventional mutations in the ELOVL5 gene which encodes an enzyme involved in the synthesis of very long fatty acids, with a specific expression in cerebellar Purkinje cells. Three Italian families carrying the mutation, one of which is of Sardinian descent, have been identified and characterized. One session of cerebellar intermittent theta burst stimulation (iTBS) was applied to 6 affected members of the Sardinian family to probe motor cortex excitability measured by motor-evoked potentials (MEPs). Afterwards, patients were exposed to ten sessions of cerebellar real and sham iTBS in a cross-over study and clinical symptoms were evaluated before and after treatment by Modified International Cooperative Ataxia Rating Scale (MICARS). Moreover, serum BDNF levels were evaluated before and after real and sham cerebellar iTBS and the role of BDNF Val66Met polymorphism in influencing iTBS effect was explored. Present data show that one session of cerebellar iTBS was able to increase MEPs in all tested patients, suggesting an enhancement of the cerebello-thalamo-cortical pathway in SCA 38. MICARS scores were reduced after ten sessions of real cerebellar iTBS showing an improvement in clinical symptoms. Finally, although serum BDNF levels were not affected by cerebellar iTBS when considering all samples, segregating for genotype a difference was found between Val66Val and Val66Met carriers. These preliminary data suggest a potential therapeutic use of cerebellar iTBS in improving motor symptoms of SCA38.

Published
2021

5. Clinical characteristics of a large cohort of patients with narcolepsy candidate for pitolisant: a cross-sectional study from the Italian PASS Wakix® Cohort

Author

Carlotta Mutti, Valerio Brunetti, Michela Figorilli, Claudio Liguori, Fabio Pizza, Paola Proserpio, Tommaso Sacco, Giuseppe Pedrazzi, Isabelle Lecomte, Nora Blanchard, Elio Clemente Agostoni, Enrica Bonanni, Diego Centonze, Alessandro Cicolin, Giacomo Della Marca, Luigi Ferini-Strambi, Raffaele Ferri, Gian Luigi Gigli, Francesca Izzi, Rocco Liguori, Raffaele Lodi, Lino Nobili, Liborio Parrino, Fabio Placidi, Monica Puligheddu, Andrea Romigi, Maria Antonietta Savarese, Michele Terzaghi, Giuseppe Plazzi, Mutti C., Brunetti V., Figorilli M., Liguori C., Pizza F., Proserpio P., Sacco T., Pedrazzi G., Lecomte I., Blanchard N., Agostoni E.C., Bonanni E., Centonze D., Cicolin A., Della Marca G., Ferini-Strambi L., Ferri R., Gigli G.L., Izzi F., Liguori R., Lodi R., Nobili L., Parrino L., Placidi F., Puligheddu M., Romigi A., Savarese M.A., Terzaghi M., and Plazzi G.

Subjects
Cross-Sectional Studie, Sleepine, Sleepiness, Dermatology, General Medicine, Disorders of Excessive Somnolence, Pitolisant, Settore MED/26, Combined therapy, Polytherapy, Sleep, Treatment, Cross-Sectional Studies, Humans, Piperidines, Narcolepsy, Psychiatry and Mental health, Piperidine, Neurology (clinical), Human
Abstract

Introduction Narcolepsy is a chronic and rare hypersomnia of central origin characterized by excessive daytime sleepiness and a complex array of symptoms as well as by several medical comorbidities. With growing pharmacological options, polytherapy may increase the possibility of a patient-centered management of narcolepsy symptoms. The aims of our study are to describe a large cohort of Italian patients with narcolepsy who were candidates for pitolisant treatment and to compare patients’ subgroups based on current drug prescription (drug-naïve patients in whom pitolisant was the first-choice treatment, switching to pitolisant from other monotherapy treatments, and adding on in polytherapy). Methods We conducted a cross-sectional survey based on Italian data from the inclusion visits of the Post Authorization Safety Study of pitolisant, a 5-year observational, multicenter, international study. Results One hundred ninety-one patients were enrolled (76.4% with narcolepsy type 1 and 23.6% with narcolepsy type 2). Most patients (63.4%) presented at least one comorbidity, mainly cardiovascular and psychiatric. Pitolisant was prescribed as an add-on treatment in 120/191 patients (62.8%), as switch from other therapies in 42/191 (22.0%), and as a first-line treatment in 29/191 (15.2%). Drug-naive patients presented more severe sleepiness, lower functional status, and a higher incidence of depressive symptoms. Conclusion Our study presents the picture of a large cohort of Italian patients with narcolepsy who were prescribed with pitolisant, suggesting that polytherapy is highly frequent to tailor a patient-centered approach.

Published
2022

6. Association between dopaminergic medications and REM sleep behavior disorder in Parkinson’s disease: a preliminary cohort study

Author

Michela Figorilli, Federico Meloni, Antonino Cannas, Monica Puligheddu, Giovanni Defazio, Patrizia Congiu, Ilaria Laccu, Marco Bortolato, and Mario Meloni

Subjects
medicine.medical_specialty, Levodopa, Neurology, Parkinson's disease, Rapid eye movement sleep, REM Sleep Behavior Disorder, Disease, REM sleep behavior disorder, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, 030212 general & internal medicine, Retrospective Studies, business.industry, Parkinson Disease, Retrospective cohort study, medicine.disease, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study, medicine.drug
Abstract

Rapid eye movement sleep behavior disorder (RBD) is highly comorbid with Parkinson’s disease (PD). Emerging evidence suggests that dopamine-replacement therapies (DRTs) for PD may modify the course of RBD, yet the nature of the association between DRTs and RBD remains unclear. To begin addressing this issue, we conducted a preliminary retrospective study to document whether DRTs are associated with the occurrence of RBD symptoms in PD patients. The study included 250 PD patients who were screened for probable RBD via the RBD Screening Questionnaire (RBDSQ). For each patient, disease severity data were collected, in addition to their therapy and the associated levodopa equivalent daily dose (LEDD). The association between DRTs and RBDSQ scores was analyzed using logistic regression and correlation models. RBD scores were found to be associated with the LEDD of levodopa alone, but not of dopaminergic agonists (mainly D2/D3 receptor agonists) or their combination with levodopa. This association was not accounted for patient age or Hoehn and Yahr (H&Y) severity scores. Our study detected a significant association between doses of levodopa and RBD symptoms in PD patients. Future longitudinal studies are needed to establish what causal nexus may link these variables.

Published
2020

7. Efficacy and safety of 5‐hydroxytryptophan on depression and apathy in Parkinson's disease: a preliminary finding

Author

Michela Figorilli, Monica Puligheddu, Mario Meloni, Antonino Cannas, Giovanni Defazio, and Manolo Carta

Subjects
Male, medicine.medical_specialty, Parkinson's disease, Apathy, Disease, Placebo, Serotonergic, 5-Hydroxytryptophan, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Double-Blind Method, Rating scale, Internal medicine, medicine, Humans, 030212 general & internal medicine, Depression (differential diagnoses), Aged, Cross-Over Studies, Depression, business.industry, Parkinson Disease, medicine.disease, Neurology, chemistry, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Background and purpose Several studies have indicated that altered serotonergic neurotransmission may contribute to non-motor features commonly associated with Parkinson's disease (PD) such as apathy and depression. 5-hydroxytryptophan (5-HTP) is the intermediate metabolite of L-tryptophan in the production of serotonin. To date, there has been inconsistent research on the use of 5-HTP in PD. The purpose of this study was to compare the effects of 5-HTP with those of placebo on apathy and depressive symptoms in patients with PD. Methods A single-center, randomized, double-blind placebo-controlled cross-over trial was employed; 25 individuals were subsequently enrolled into the study. Patients received placebo and 50 mg of 5-HTP daily over a period of 4 weeks. For the assessment of efficacy on depressive and apathy symptoms the Beck Depression Inventory-II (BDI-II), Hamilton Depression Rating Scale (HDRS) and Apathy Scale (AS) were respectively administered at screening, baseline and weeks 4, 8, 12 and 16. Primary efficacy outcomes were the comparison of 5-HTP to placebo in mean change from baseline to weeks 4, 8, 12 and 16 in total score on the AS, BDI-II and HDRS. Results Repeated-measures analysis revealed a significant improvement of depressive symptoms during the 50-mg 5-HTP treatment compared with placebo as assessed by the HDRS. No effect of 5-HTP was seen on apathy symptoms assessed by the AS. Conclusions This study provides preliminary evidence of clinical benefit of 5-HTP for treating depressive symptoms in PD. Larger studies with a longer treatment duration are needed to corroborate these early findings.

Published
2020

8. Fine‐Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies

Author

Edward A. Fon, Armaghan Alam, Richard Y.J. Wu, Cornelis Blauwendraat, Jennifer A. Ruskey, Luigi Ferini-Strambi, Paul Cannon, Mathias Toft, Mariarosaria Valente, Alex Desautels, Andrew B. Singleton, Valérie Cochen De Cock, Yves Dauvilliers, Elena Antelmi, C. Trenkwalder, Kari Anne Bjørnarå, Abril Beatriz, Christelle Charley Monaca, Jacques Montplaisir, Nicolas Dupré, Mineke Viaene, Peter Young, Birgit Högl, Giuseppe Plazzi, Monica Puligheddu, W. H. Oertel, Marco Toffoli, Bradley F. Boeve, Owen A. Ross, Friederike Sixel-Döring, Lasse Pihlstrøm, Michele T.M. Hu, Isabelle Arnulf, Sandra B. Laurent, Karl Heilbron, Michela Figorilli, Anna Heidbreder, Lynne Krohn, Guy A. Rouleau, Karel Sonka, Ziv Gan-Or, Mike A. Nalls, Jean-François Gagnon, David Kemlink, Evi Holzknecht, Femke Dijkstra, Ambra Stefani, Gian Luigi Gigli, Brit Mollenhauer, Ronald B. Postuma, Krohn L., Wu R.Y.J., Heilbron K., Ruskey J.A., Laurent S.B., Blauwendraat C., Alam A., Arnulf I., Hu M.T.M., Dauvilliers Y., Hogl B., Toft M., Bjornara K.A., Stefani A., Holzknecht E., Monaca C.C., Abril B., Plazzi G., Antelmi E., Ferini-Strambi L., Young P., Heidbreder A., Cochen De Cock V., Mollenhauer B., Sixel-Doring F., Trenkwalder C., Sonka K., Kemlink D., Figorilli M., Puligheddu M., Dijkstra F., Viaene M., Oertel W., Toffoli M., Gigli G.L., Valente M., Gagnon J.-F., Nalls M.A., Singleton A.B., Desautels A., Montplaisir J.Y., Cannon P., Ross O.A., Boeve B.F., Dupre N., Fon E.A., Postuma R.B., Pihlstrom L., Rouleau G.A., Gan-Or Z., Krohn, L., R. Y. J., Wu, Heilbron, K., Ruskey, J. A., Laurent, S. B., Blauwendraat, C., Alam, A., Arnulf, I., M. T. M., Hu, Dauvilliers, Y., Hogl, B., Toft, M., Bjornara, K. A., Stefani, A., Holzknecht, E., Monaca, C. C., Abril, B., Plazzi, G., Antelmi, E., Ferini-Strambi, L., Young, P., Heidbreder, A., Cochen De Cock, V., Mollenhauer, B., Sixel-Doring, F., Trenkwalder, C., Sonka, K., Kemlink, D., Figorilli, M., Puligheddu, M., Dijkstra, F., Viaene, M., Oertel, W., Toffoli, M., Gigli, G. L., Valente, M., Gagnon, J. -F., Nalls, M. A., Singleton, A. B., Desautels, A., Montplaisir, J. Y., Cannon, P., Ross, O. A., Boeve, B. F., Dupre, N., Fon, E. A., Postuma, R. B., Pihlstrom, L., Rouleau, G. A., Gan-Or, Z., McGill University Health Center [Montreal] (MUHC), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], Imperial College London, 23andMe Inc., National Institute on Aging [Bethesda, USA] (NIA), National Institutes of Health [Bethesda] (NIH), Centre d'investigation clinique Neurosciences [CHU Pitié Salpêtrière] (CIC Neurosciences), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Oxford [Oxford], Nuffield Department of Clinical Neurosciences [Oxford], Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Innsbruck Medical University [Austria] (IMU), Oslo University Hospital [Oslo], Service de neurophysiologie clinique (CHRU Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Alma Mater Studiorum University of Bologna (UNIBO), University of Bologna, Department of Biomedical and Neuromotor Sciences [Bologna, Italy], Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), University of Münster, Clinique Beau Soleil [Montpellier], EuroMov - Digital Health in Motion (Euromov DHM), IMT - MINES ALES (IMT - MINES ALES), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Montpellier (UM), Paracelsus-Elena-Klinik, Kassel, Germany., University Medical Center Göttingen (UMG), First Faculty of Medicine Charles University [Prague], Universita degli Studi di Cagliari [Cagliari], Algemeen Ziekenhuis Sint-Dimpna, Philipps University of Marburg, Università degli Studi di Udine - University of Udine [Italie], University College of London [London] (UCL), Department of Mathematics and Computer Science [Udine], Hôpital du Sacré-Coeur de Montréal, Université du Québec à Montréal = University of Québec in Montréal (UQAM), Data Tecnica International, Centre d'études avancées en Médecine du Sommeil (CEAMS), Université de Montréal (UdeM)-Hôpital du Sacré-Coeur de Montréal, Mayo Clinic [Jacksonville], Mayo Clinic [Rochester], Laval University Medical center, and Université Laval [Québec] (ULaval)

Subjects
Male, 0301 basic medicine, Oncology, Linkage disequilibrium, Synucleinopathies, REM sleep behavior disorder, MESH: Logistic Models, REM Sleep Behavior Disorder, 0302 clinical medicine, synucleinopathy, SNCA, Odds Ratio, RBD-specific risk variants, MESH: Aged, MESH: Middle Aged, Rapid eye movement sleep behavior disorder (RBD), MESH: Polymorphism, Single Nucleotide, MESH: Genetic Predisposition to Disease, Parkinson Disease, Middle Aged, MESH: Case-Control Studies, 3. Good health, Neurology, MESH: Synucleinopathies, alpha-Synuclein, Female, Adult, Lewy Body Disease, medicine.medical_specialty, Prodromal Symptoms, Single-nucleotide polymorphism, Locus (genetics), Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Internal medicine, MESH: alpha-Synuclein, medicine, Humans, Genetic Predisposition to Disease, MESH: Prodromal Symptoms, Allele frequency, MESH: Lewy Body Disease, Aged, MESH: Humans, business.industry, Dementia with Lewy bodies, [SCCO.NEUR]Cognitive science/Neuroscience, MESH: Adult, Odds ratio, medicine.disease, MESH: Odds Ratio, MESH: Male, synucleinopathies, Logistic Models, 030104 developmental biology, MESH: REM Sleep Behavior Disorder, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Case-Control Studies, Synuclein, Neurology (clinical), business, MESH: Female, MESH: Parkinson Disease, 030217 neurology & neurosurgery
Abstract

Objective: Rapid eye movement sleep behavior disorder (RBD) is a prodromal synucleinopathy, as >80% will eventually convert to overt synucleinopathy. We performed an in-depth analysis of the SNCA locus to identify RBD-specific risk variants. Methods: Full sequencing and genotyping of SNCA was performed in isolated/idiopathic RBD (iRBD, n = 1,076), Parkinson disease (PD, n = 1,013), dementia with Lewy bodies (DLB, n = 415), and control subjects (n = 6,155). The iRBD cases were diagnosed with RBD prior to neurodegeneration, although some have since converted. A replication cohort from 23andMe of PD patients with probable RBD (pRBD) was also analyzed (n = 1,782 cases; n = 131,250 controls). Adjusted logistic regression models and meta-analyses were performed. Effects on conversion rate were analyzed in 432 RBD patients with available data using Kaplan–Meier survival analysis. Results: A 5′-region SNCA variant (rs10005233) was associated with iRBD (odds ratio [OR] = 1.43, p = 1.1E-08), which was replicated in pRBD. This variant is in linkage disequilibrium (LD) with other 5′ risk variants across the different synucleinopathies. An independent iRBD-specific suggestive association (rs11732740) was detected at the 3′ of SNCA (OR = 1.32, p = 4.7E-04, not statistically significant after Bonferroni correction). Homozygous carriers of both iRBD-specific SNPs were at highly increased risk for iRBD (OR = 5.74, p = 2E-06). The known top PD-associated variant (3′ variant rs356182) had an opposite direction of effect in iRBD compared to PD. Interpretation: There is a distinct pattern of association at the SNCA locus in RBD as compared to PD, with an opposite direction of effect at the 3′ of SNCA. Several 5′ SNCA variants are associated with iRBD and with pRBD in overt synucleinopathies. ANN NEUROL 2020;87:584–598.

Published
2020

9. Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder

Author

Christelle Charley Monaca, Gian Luigi Gigli, Wolfgang H. Oertel, Francesco Biscarini, Monica Puligheddu, Michela Figorilli, Uladzislau Rudakou, Yuri L. Sosero, Farnaz Asayesh, Guy A. Rouleau, Jean-François Gagnon, Anna Heidbreder, Jennifer A. Ruskey, Femke Dijkstra, Sandra B. Laurent, Birgit Högl, Claudia Trenkwalder, Michele T.M. Hu, Kheireddin Mufti, Mariarosaria Valente, Abubaker Ibrahim, Jacques Montplaisir, Alex Desautels, Nicholas Oscroft, Lynne Krohn, Friederike Sixel-Döring, Karel Sonka, Timothy Quinnell, Luigi Ferini-Strambi, Francesco Janes, Eric Yu, Ziv Gan-Or, Valérie Cochen De Cock, David Kemlink, Ambra Stefani, Isabelle Arnulf, Andrea Bernardini, Elena Antelmi, Mineke Viaene, Annette Janzen, Beatriz Abril, Giuseppe Plazzi, Dan Spiegelman, Bradley F. Boeve, Brit Mollenhauer, Y. Dauvilliers, Mehrdad Asghari Estiar, Ronald B. Postuma, and Jean-François Trempe

Subjects
Association test, Parkinson's disease, Motor dysfunction, Synucleinopathies, REM sleep behavior disorder, saposin C, PSAP, Saposins, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Humans, genetics, Cognitive impairment, 030304 developmental biology, Genetics, 0303 health sciences, Genetic interaction, business.industry, glucocerebrosidase, Prodromal Stage, Parkinson Disease, GBA, medicine.disease, Parkinson’s disease, Glucosylceramidase, Human medicine, Neurology (clinical), business, Glucocerebrosidase, 030217 neurology & neurosurgery
Abstract

Background: PSAP encodes saposin C, the co-activator of glucocerebrosidase, encoded by GBA. GBA mutations are associated with idiopathic/isolated REM sleep behavior disorder (iRBD), a prodromal stage of synucleinopathy. Objective: To examine the role of PSAP mutations in iRBD. Methods: We fully sequenced PSAP and performed Optimized Sequence Kernel Association Test in 1,113 iRBD patients and 2,324 controls. We identified loss-of-function (LoF) mutations, which are very rare in PSAP, in three iRBD patients and none in controls (uncorrected p = 0.018). Results: Two variants were stop mutations, p.Gln260Ter and p.Glu166Ter, and one was an in-frame deletion, p.332_333del. All three mutations have a deleterious effect on saposin C, based on in silico analysis. In addition, the two carriers of p.Glu166Ter and p.332_333del mutations also carried a GBA variant, p.Arg349Ter and p.Glu326Lys, respectively. The co-occurrence of these extremely rare PSAP LoF mutations in two (0.2%) GBA variant carriers in the iRBD cohort, is unlikely to occur by chance (estimated co-occurrence in the general population based on gnomAD data is 0.00035%). Although none of the three iRBD patients with PSAP LoF mutations have phenoconverted to an overt synucleinopathy at their last follow-up, all manifested initial signs suggestive of motor dysfunction, two were diagnosed with mild cognitive impairment and all showed prodromal clinical markers other than RBD. Their probability of prodromal PD, according to the Movement Disorder Society research criteria, was 98% or more. Conclusion: These results suggest a possible role of PSAP variants in iRBD and potential genetic interaction with GBA, which requires additional studies.

Published
2022

10. Preliminary finding of a randomized, double-blind, placebo-controlled, crossover study to evaluate the safety and efficacy of 5-hydroxytryptophan on REM sleep behavior disorder in Parkinson's disease

Author

Michela Figorilli, Antonino Cannas, Ludovica Tamburrino, Giovanni Defazio, Monica Puligheddu, Manolo Carta, Mario Meloni, and Fabrizio Sanna

Subjects
medicine.medical_specialty, education.field_of_study, Neurology, Parkinson's disease, Cross-Over Studies, business.industry, Polysomnography, Population, Parkinson Disease, REM Sleep Behavior Disorder, Placebo, medicine.disease, Crossover study, REM sleep behavior disorder, 5-Hydroxytryptophan, Otorhinolaryngology, Internal medicine, Clinical Global Impression, medicine, Humans, Neurology (clinical), Sleep onset, education, business
Abstract

Purpose Altered serotonergic neurotransmission may contribute to the non-motor features commonly associated with Parkinson’s disease (PD) such as sleep disorders. The 5-hydroxytryptophan (5-HTP) is the intermediate metabolite of l-tryptophan in the production of serotonin and melatonin. The purpose of this study was to compare the effects of 5-HTP to placebo on REM sleep behavior disorder (RBD) status in patients with PD. Methods A single-center, randomized, double-blind placebo-controlled crossover trial was performed in a selected population of 18 patients with PD and RBD. The patients received a placebo and 50 mg of 5-HTP daily in a crossover design over a period of 4 weeks. Results 5-HTP produced an increase in the total percentage of stage REM sleep without a related increase of RBD episodes, as well as a marginal, non-significant reduction in both arousal index and wake after sleep onset. The self-reported RBD frequency and clinical global impression (CGI) were improved during 5-HTP and placebo treatment in comparison to baseline. 5-HTP significantly improved our patients’ motor experiences of daily living as rated by the Unified Parkinson’s Disease Rating Scale (UPDRS) part II. Conclusions This study provides evidence that 5-HTP is safe and effective in improving sleep stability in PD, contributing to ameliorate patients’ global sleep quality. Larger studies with higher doses and longer treatment duration are needed to corroborate these preliminary findings.

Published
2021

11. Comprehensive Analysis of Familial Parkinsonism Genes in Rapid‐Eye‐Movement Sleep Behavior Disorder

Author

Christelle Charley Monaca, Alex Desautels, Yves Dauvilliers, Beatriz Abril, Elena Antelmi, Ambra Stefani, Giuseppe Plazzi, Karel Sonka, Monica Puligheddu, Brit Mollenhauer, Birgit Högl, Sandra B. Laurent, Eric Yu, Farnaz Asayesh, Luigi Ferini-Strambi, Mariarosaria Valente, Jennifer A. Ruskey, Michela Figorilli, Uladzislau Rudakou, Annette Janzen, Ziv Gan-Or, Francesco Janes, Mineke Viaene, Ronald B. Postuma, Valérie Cochen De Cock, Bradley F. Boeve, David Kemlink, Evi Holzknecht, Dan Spiegelman, Jacques Montplaisir, Anna Heidbreder, Gian Luigi Gigli, Michele T.M. Hu, Friederike Sixel-Döring, Lynne Krohn, Kheireddin Mufti, Guy A. Rouleau, Isabelle Arnulf, Claudia Trenkwalder, Wolfgang H. Oertel, Femke Dijkstra, Jean-François Gagnon, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Clinique Beau Soleil [Montpellier], EuroMov - Digital Health in Motion (Euromov DHM), IMT - MINES ALES (IMT - MINES ALES), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Montpellier (UM), CHU Lille, Université de Lille, Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Mufti, K., Rudakou, U., Yu, E., Krohn, L., Ruskey, J. A., Asayesh, F., Laurent, S. B., Spiegelman, D., Arnulf, I., M. T. M., Hu, Montplaisir, J. Y., Gagnon, J. -F., Desautels, A., Dauvilliers, Y., Gigli, G. L., Valente, M., Janes, F., Hogl, B., Stefani, A., Holzknecht, E., Sonka, K., Kemlink, D., Oertel, W., Janzen, A., Plazzi, G., Antelmi, E., Figorilli, M., Puligheddu, M., Mollenhauer, B., Trenkwalder, C., Sixel-Doring, F., Cochen De Cock, V., Monaca, C. C., Heidbreder, A., Ferini-Strambi, L., Dijkstra, F., Viaene, M., Abril, B., Boeve, B. F., Postuma, R. B., Rouleau, G. A., and Gan-Or, Z.

Subjects
0301 basic medicine, Heterozygote, Parkinson's disease, MESH: Sleep, [SDV]Life Sciences [q-bio], REM sleep behavior disorder, Rapid eye movement sleep, Disease, genetic analysis, Compound heterozygosity, Genetic analysis, 03 medical and health sciences, 0302 clinical medicine, Parkinsonian Disorders, Medicine, Humans, MESH: Heterozygote, Genetics, MESH: Humans, business.industry, MESH: Parkinsonian Disorders, PARK7, Parkinson Disease, medicine.disease, LRRK2, 3. Good health, 030104 developmental biology, Neurology, MESH: REM Sleep Behavior Disorder, Human medicine, Neurology (clinical), business, Sleep, 030217 neurology & neurosurgery, MESH: Parkinson Disease
Abstract

International audience; Background: There is only partial overlap in the genetic background of isolated rapid-eye-movement sleep behavior disorder (iRBD) and Parkinson's disease (PD).Objective: To examine the role of autosomal dominant and recessive PD or atypical parkinsonism genes in the risk of iRBD.Methods: Ten genes, comprising the recessive genes PRKN, DJ-1 (PARK7), PINK1, VPS13C, ATP13A2, FBXO7, and PLA2G6 and the dominant genes LRRK2, GCH1, and VPS35, were fully sequenced in 1039 iRBD patients and 1852 controls of European ancestry, followed by association tests.Results: We found no association between rare heterozygous variants in the tested genes and risk of iRBD. Several homozygous and compound heterozygous carriers were identified, yet there was no overrepresentation in iRBD patients versus controls.Conclusion: Our results do not support a major role for variants in these genes in the risk of iRBD. © 2020 International Parkinson and Movement Disorder Society.

Published
2021

12. Dopaminergic imaging and clinical predictors for phenoconversion of REM sleep behaviour disorder

Author

Karel Sonka, Thomas R Barber, Michele Terzaghi, Michal Rolinski, Fabio Pizza, Petr Dusek, Masayuki Miyamoto, Riccardo Meli, Matteo Bauckneht, Giuseppe Plazzi, Flavio Nobili, Bradley F. Boeve, Alessandra Serra, Lennon Jordan, Jiří Trnka, Raffaele Manni, Andrea Chincarini, Naoko Tachibana, Daniel R. McGowan, Val J. Lowe, Tomoyuki Miyamoto, Silvia Morbelli, Monica Puligheddu, Michela Figorilli, Elena Antelmi, David Zogala, Irene Bossert, Valérie Cochen De Cock, Toji Miyagawa, Dario Arnaldi, Delphine de Verbizier, Kevin M. Bradley, Michele T.M. Hu, Arnaldi, Dario, Chincarini, Andrea, Hu, Michele T, Sonka, Karel, Boeve, Bradley, Miyamoto, Tomoyuki, Puligheddu, Monica, De Cock, Valérie Cochen, Terzaghi, Michele, Plazzi, Giuseppe, Tachibana, Naoko, Morbelli, Silvia, Rolinski, Michal, Dusek, Petr, Lowe, Val, Miyamoto, Masayuki, Figorilli, Michela, de Verbizier, Delphine, Bossert, Irene, Antelmi, Elena, Meli, Riccardo, Barber, Thomas R, Trnka, Jiří, Miyagawa, Toji, Serra, Alessandra, Pizza, Fabio, Bauckneht, Matteo, Bradley, Kevin M, Zogala, David, McGowan, Daniel R, Jordan, Lennon, Manni, Raffaele, and Nobili, Flavio

Subjects
Male, medicine.medical_specialty, Synucleinopathies, Unified Parkinson's disease rating scale, Kaplan-Meier Estimate, REM Sleep Behavior Disorder, Logistic regression, REM sleep behavior disorder, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Aged, Retrospective Studies, Tomography, Emission-Computed, Single-Photon, Dopamine Plasma Membrane Transport Proteins, Mini–Mental State Examination, medicine.diagnostic_test, Proportional hazards model, business.industry, Parkinsonism, Hazard ratio, Putamen, Original Articles, Middle Aged, medicine.disease, Confidence interval, REM sleep behaviour disorder, ROC Curve, SPECT, Parkinson’s disease, Female, Neurology (clinical), dementia with Lewy bodies, Caudate Nucleus, business, 030217 neurology & neurosurgery, Tropanes
Abstract

This is an international multicentre study aimed at evaluating the combined value of dopaminergic neuroimaging and clinical features in predicting future phenoconversion of idiopathic REM sleep behaviour (iRBD) subjects to overt synucleinopathy. Nine centres sent 123I-FP-CIT-SPECT data of 344 iRBD patients and 256 controls for centralized analysis. 123I-FP-CIT-SPECT images were semiquantified using DaTQUANTTM, obtaining putamen and caudate specific to non-displaceable binding ratios (SBRs). The following clinical variables were also analysed: (i) Movement Disorder Society-sponsored revision of the Unified Parkinson’s Disease Rating Scale, motor section score; (ii) Mini-Mental State Examination score; (iii) constipation; and (iv) hyposmia. Kaplan-Meier survival analysis was performed to estimate conversion risk. Hazard ratios for each variable were calculated with Cox regression. A generalized logistic regression model was applied to identify the best combination of risk factors. Bayesian classifier was used to identify the baseline features predicting phenoconversion to parkinsonism or dementia. After quality check of the data, 263 iRBD patients (67.6 ± 7.3 years, 229 males) and 243 control subjects (67.2 ± 10.1 years, 110 males) were analysed. Fifty-two (20%) patients developed a synucleinopathy after average follow-up of 2 years. The best combination of risk factors was putamen dopaminergic dysfunction of the most affected hemisphere on imaging, defined as the lower value between either putamina (P

Published
2020

13. Diagnosing REM sleep behavior disorder in Parkinson’s disease without a gold standard: a latent-class model study

Author

Monica Puligheddu, Céline Lambert, Mario Meloni, Ana Marques, Michela Figorilli, Leonardo Lopiano, Bruno Pereira, Maurizio Zibetti, Franck Durif, Alessandro Cicolin, and Maria Livia Fantini

Subjects
Pediatrics, medicine.medical_specialty, Movement disorders, Parkinson's disease, Polysomnography, REM Sleep Behavior Disorder, REM sleep behavior disorder, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), medicine, Humans, In patient, Aged, medicine.diagnostic_test, business.industry, Scoring methods, Parkinson Disease, Gold standard (test), Middle Aged, Reference Standards, medicine.disease, Latent class model, 030228 respiratory system, Latent Class Analysis, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Study Objectives To ascertain whether current diagnostic criteria for REM sleep behavior disorder (RBD) are appropriate in patients with Parkinson’s disease (PD) consulting a movement disorder center, to evaluate the accuracy of REM sleep without atonia (RSWA) thresholds and determine the value of screening questionnaires to discriminate PD patients with RBD. Methods One hundred twenty-eight consecutive PD patients (M = 80; mean age: 65.6 ± 8.3 years) underwent screening questionnaires, followed by a sleep-focused interview and a full-night video-polysomnography (vPSG). Without a gold standard, latent class models (LCMs) were applied to create an unobserved (“latent”) variable. Sensitivity analysis was performed using RSWA cutoff derived from two visual scoring methods. Finally, we assessed the respective diagnostic performance of each diagnostic criterion for RBD and of the screening questionnaires. Results According to the best LCM-derived model, patients having either “history” or “video” with RSWA or alternatively showing both “history” and “video” without RSWA were classified as having RBD. Using both SINBAR and Montreal scoring methods, RSWA criterion showed the highest sensitivity while concomitant history of RBD and vPSG-documented behaviors, regardless to presence of RSWA, displayed the highest specificity. Currently recommended diagnostic threshold of RSWA was found to be optimal in our large cohort of PD patients. Both the RBD screening questionnaire (RBDSQ) and the RBD single question (RBD1Q) showed poor sensitivity and specificity. Conclusions Results of the best LCM for diagnosis of RBD in PD were consistent with the current diagnostic criteria. Moreover, RBD might be considered in those PD patients with both history and vPSG-documented dream enactment behaviors, but with RSWA values within the normal range.

Published
2020

14. Artificial neural networks analysis of sleep features and cognitive-behavioral profile in sleep-related hypermotor epilepsy and disorders of arousal

Author

Maria Giuseppina Mascia, Patrizia Congiu, Elisa Casaglia, Antonella Gagliano, Davide Fonti, Monica Puligheddu, Roberta Coa, Michela Figorilli, Enzo Grossi, Ludovica Tamburrino, and R. Lecca

Subjects
Epilepsy, Neurology, Artificial neural network, medicine, Cognition, Neurology (clinical), Psychology, medicine.disease, Neuroscience, Sleep in non-human animals, Arousal
Published
2021

16. Analysis of dominant and recessive parkinsonism genes in REM sleep behavior disorder

Author

Michele T.M. Hu, F. Asavesh, Ronald B. Postuma, B. F. Boeve, Jennifer A. Ruskey, Eric Yu, I. Arnulf, Michela Figorilli, Ambra Stefani, G. Plazzi, D. Kemlink, Peter Young, Christelle Charley Monaca, Sandra Laurent, Gian Luigi Gigli, Mineke Viaene, Jacques Montplaisir, Elena Antelmi, Yves Dauvilliers, Birgit Högl, W. H. Oertel, A. Desautels, Guy A. Rouleau, Ziv Gan-Or, F. Dijkstra, Mariarosaria Valente, Kheireddin Mufti, Uladzislau Rudakou, V. Cochen De Cock, Friederike Sixel-Döring, Evi Holzknecht, Claudia Trenkwalder, Monica Maria Francesca Puligheddu, Brit Mollenhauer, Luigi Ferini-Strambi, Jean Gagnon, A. Heidbreder, B. Abril, and Karel Sonka

Subjects
Genetics, Neurology, Parkinsonism, medicine, Neurology (clinical), Geriatrics and Gerontology, Biology, medicine.disease, Gene, REM sleep behavior disorder
Published
2020

17. Étude longitudinale du trouble comportemental en sommeil paradoxal dans la maladie de Parkinson

Author

Bruno Pereira, A. Marques, Maria Livia Fantini, Mario Meloni, Michela Figorilli, Franck Durif, and Monica Puligheddu

Subjects
Behavioral Neuroscience, Neuropsychology and Physiological Psychology, Neurology, Cognitive Neuroscience, Neurology (clinical)
Abstract

Objectif L’evolution du trouble comportemental en sommeil paradoxal (TCSP) dans la maladie de Parkinson (MP) est mal connue, certains patients rapportant une amelioration clinique. Nous avons etudie de maniere prospective les caracteristiques cliniques et video-polysomnographiques (vPSG) des patients avec MP-TCSP, incluant des mesures du sommeil paradoxal sans atonie (RSWA). Methodes Nous avons inclus 22 patients atteints de MP moderee a avancee et TCSP (17 M, âge moyen 64,0 ± 6,9 ans, duree moyenne de la MP : 7,6 ans), ayant eu une vPSG nocturne et un bilan clinique et neuropsychologique au depart et apres 3 ans. Resultats Apres 3 ans, la frequence subjective des symptomes de TCSP a augmente chez 6 patients, diminue chez 6 et est restee stable chez 10, tandis que le RSWA a augmente significativement chez tous les sujets. Apres 3 ans les patients MP-TCSP etaient plus severes (p = 0,02), avaient des doses de traitement dopaminergique plus elevees (p = 0,05) et des moins bons resultats aux tests de fluence verbale phonetique et semantique (p = 0,02 ; p = 0,04). Les changements du RSWA correlaient avec l’aggravation des scores de dyskinesie (r = 0,61 ; p = 0,05) et de fluctuation motrice (r : 0,54 ; p = 0,03), la degradation des fonctions executives (r = 0,78 ; p = 0,001) et de la perception visuo-spatiale (r = 0,57 ; p = 0,04). Conclusion Malgre l’amelioration subjective des symptomes de TCSP chez certains patients, le RSWA augmente significativement apres 3 ans, parallelement a l’evolution clinique des symptomes moteurs et non moteurs. Le TCSP est un marqueur stable dans la MP, alors que le RSWA est un indicateur de progression de la maladie.

Published
2020

18. GBA variants in REM sleep behavior disorder: a multicenter study

Author

Jennifer A. Ruskey, Friederike Sixel-Döring, David Kemlink, Michela Figorilli, Giuseppe Plazzi, Gian Luigi Gigli, Christelle Charley Monaca, Alberto J. Espay, Michele T.M. Hu, Monica Puligheddu, Bradley F. Boeve, Abril Beatriz, Lynne Krohn, Wolfgang H. Oertel, Yves Dauvilliers, Elena Antelmi, Marco Toffoli, Ziv Gan-Or, Uladzislau Rudakou, Mariarosaria Valente, Anna Heidbreder, Valérie Cochen De Cock, Etienne Leveille, Mineke Viaene, Ronald B. Postuma, Jean-François Gagnon, Jacques Montplaisir, Ambra Stefani, Claudia Trenkwalder, Birgit Högl, Guy A. Rouleau, Farnaz Asayesh, Luigi Ferini-Strambi, Karel Sonka, Isabelle Arnulf, Brit Mollenhauer, Alex Desautels, Femke Dijkstra, Krohn, L., Ruskey, J. A., Rudakou, U., Leveille, E., Asayesh, F., M. T. M., Hu, Arnulf, I., Dauvilliers, Y., Hogl, B., Stefani, A., Monaca, C. C., Abril, B., Plazzi, G., Antelmi, E., Ferini-Strambi, L., Heidbreder, A., Boeve, B. F., Espay, A. J., De Cock, V. C., Mollenhauer, B., Sixel-Doring, F., Trenkwalder, C., Sonka, K., Kemlink, D., Figorilli, M., Puligheddu, M., Dijkstra, F., Viaene, M., Oertel, W., Toffoli, M., Gigli, G. L., Valente, M., Gagnon, J. -F., Desautels, A., Montplaisir, J. Y., Postuma, R. B., Rouleau, G. A., Gan-Or, Z., McGill University = Université McGill [Montréal, Canada], McGill University Health Center [Montreal] (MUHC), Institut Interdisciplinaire d'Innovation Technologique [Sherbrooke] (3IT), Université de Sherbrooke (UdeS), Department of Neurology and Neurosurgery [Montreal], Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), University of Bologna/Università di Bologna, Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), Mayo Clinic [Rochester], University of Cincinnati (UC), Euromov (EuroMov), Université de Montpellier (UM), University Medical Center Göttingen (UMG), Philipps Universität Marburg = Philipps University of Marburg, Charles University [Prague] (CU), First Faculty of Medicine Charles University [Prague], University of Cagliari, Università degli Studi di Udine - University of Udine [Italie], University of Alberta, Université de Montréal (UdeM), Hôpital du Sacré-Coeur de Montréal, National Institutes of Health [Bethesda] (NIH), Service de Pathologies du sommeil [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Retiveau, Nolwenn

Subjects
Male, 0301 basic medicine, [SDV]Life Sciences [q-bio], REM Sleep Behavior Disorder, MESH: Glucosylceramidase, Gastroenterology, MESH: Neurodegenerative Diseases, Behavior disorder, 0302 clinical medicine, MESH: Genetic Variation, Age of Onset, MESH: Aged, Sanger sequencing, 0303 health sciences, MESH: Middle Aged, Genetic analysis, MESH: Genetic Predisposition to Disease, Neurodegenerative Diseases, Middle Aged, 3. Good health, [SDV] Life Sciences [q-bio], Disease Progression, symbols, Glucosylceramidase, MESH: Disease Progression, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], GBA, Female, medicine.medical_specialty, MESH: Age of Onset, REM sleep behavior disorder, 03 medical and health sciences, symbols.namesake, Internal medicine, medicine, Humans, Dementia with Lewy Bodies, Genetic Predisposition to Disease, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 030304 developmental biology, Aged, MESH: Humans, business.industry, Dementia with Lewy bodies, Parkinson’s disease, Genetic Variation, Odds ratio, medicine.disease, MESH: Male, Confidence interval, 030104 developmental biology, MESH: REM Sleep Behavior Disorder, Multicenter study, Neurology (clinical), business, MESH: Female, 030217 neurology & neurosurgery
Abstract

ObjectiveTo study the role of GBA variants in the risk for isolated rapid-eye-movement (REM)-sleep behavior disorder (iRBD) and conversion to overt neurodegeneration.MethodsA total of 4,147 individuals were included: 1,061 iRBD patients and 3,086 controls. GBA was fully sequenced using molecular inversion probes and Sanger sequencing. We analyzed the effects of GBA variants on the risk for iRBD, age at onset (AAO) and conversion rates.ResultsGBA variants were found in 9.5% of iRBD patients compared to 4.1% in controls (odds ratio [OR]=2.45, 95% CI=1.87–3.22, p=1×10−10). The estimated OR for mild p.N370S variant carriers was 3.69, 95% CI=1.90–7.14, p=3.5×10−5, while for severe variant carriers it was 17.55, 95% CI=2.11–145.9, p=0.0015. Carriers of severe GBA variants had an average AAO of 52.8 years, 7-8 years earlier than those with mild variants or non-carriers (p=0.029). Of the GBA variant carriers with available data, 52.5% had converted, compared to 35.6% in non-carriers (p=0.011), with a trend for faster conversion among severe GBA variant carriers. However, the results on AAO and conversion were based on small numbers and should be taken with caution.ConclusionsGBA variants robustly and differentially increase the risk of iRBD. The rate of conversion to neurodegeneration is also increased and may be faster among severe GBA variant carriers, although confirmation will be required in larger samples. Screening for RBD in healthy carriers of GBA variants should be studied as a potential way to identify GBA variant carriers who will develop a synucleinopathy in the future.

Published
2019
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19. REM Sleep without atonia correlates with abnormal vestibular-evoked myogenic potentials in isolated REM sleep behavior disorder

Author

Monica Puligheddu, Ilaria Laccu, Francesca Ginatempo, Carlos H. Schenck, Ludovica Tamburrino, Franca Deriu, Michela Figorilli, Edoardo Rosario de Natale, Raffaele Ferri, Patrizia Congiu, Gianluigi Loi, Maria Livia Fantini, and Alessandra Serra

Subjects
Male, medicine.medical_specialty, Polysomnography, Vestibular evoked myogenic potential, Sleep, REM, REM Sleep Behavior Disorder, Audiology, REM sleep behavior disorder, Tonic (physiology), 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Humans, Medicine, Aged, 030304 developmental biology, Dopamine transporter, 0303 health sciences, medicine.diagnostic_test, biology, business.industry, Neurodegeneration, Neurodegenerative Diseases, Middle Aged, Neurophysiology, medicine.disease, Vestibular Evoked Myogenic Potentials, biology.protein, Muscle Hypotonia, Female, Neurology (clinical), Brainstem, business, 030217 neurology & neurosurgery, Brain Stem, Tropanes
Abstract

Study ObjectivesThe neurophysiological hallmark of REM sleep behavior disorder (RBD) is loss of atonia during REM sleep. Indeed, signs and symptoms of neurodegeneration can occur after years, even decades, from its beginning. This study aimed to measure neurophysiological alterations of the brainstem that potentially correlate with the severity of atonia loss, and determining whether a prodromal neurodegenerative disorder underlines this condition when it occurs as an isolated condition (iRBD).MethodsSubjects with iRBD and matched healthy controls were recruited. The study included the recording of one-night polysomnography, vestibular-evoked myogenic potentials (VEMPs), and a [123I]-FP-CIT dopamine transporter (DAT) scan. The quantification of REM sleep without atonia (RSWA) was made according to two previously published manual methods and one automated method.ResultsThe rate of alteration of VEMPs and VEMP score were significantly higher in iRBD patients than controls. Moreover, VEMP score was negatively correlated with the automated REM atonia index; a marginal statistical significance was also reached for the positive correlation with the visual tonic electromyographic parameter, while the other correlations, including that with DAT-scan score were not statistically significant.ConclusionsBrainstem neurophysiology in iRBD can be assessed by VEMPs and their alterations may possibly indicate an early expression of the neurodegenerative process underlying this disorder at the brainstem level, which awaits future longitudinal confirmation. The correlation between RSWA and VEMP alteration might also represent a prodromal aspect anticipating the possible evolution from iRBD to neurodegeneration, whereas DAT-scan abnormalities might represent a later step in this evolution.

Published
2019

20. SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder

Author

Marco Toffoli, Uladzislau Rudakou, Anna Heidbreder, Michele T.M. Hu, Isabelle Arnulf, Lynne Krohn, Jean-François Gagnon, Femke Dijkstra, Yves Dauvilliers, Beatriz Abril, Elena Antelmi, Brit Mollenhauer, Annette Janzen, Naomi C. Futhey, Ambra Stefani, Jacques Montplaisir, W. H. Oertel, David Kemlink, Evi Holzknecht, Armaghan Alam, Paul Cannon, Luigi Ferini-Strambi, Guy A. Rouleau, Claudia Trenkwalder, Mineke Viaene, Karel Sonka, Birgit Högl, Christelle Charley Monaca, Ronald B. Postuma, Monica Puligheddu, Alex Desautels, Mariarosaria Valente, Bradley F. Boeve, Karl Heilbron, Valérie Cochen De Cock, Michela Figorilli, Friederike Sixel-Döring, Ziv Gan-Or, Gian Luigi Gigli, Jennifer A. Ruskey, Giuseppe Plazzi, Rudakou, U., Futhey, N. C., Krohn, L., Ruskey, J. A., Heilbron, K., Cannon, P., Alam, A., Arnulf, I., M. T. M., Hu, Montplaisir, J. Y., Gagnon, J. -F., Desautels, A., Dauvilliers, Y., Toffoli, M., Gigli, G. L., Valente, M., Hogl, B., Stefani, A., Holzknecht, E., Sonka, K., Kemlink, D., Oertel, W., Janzen, A., Plazzi, G., Antelmi, E., Figorilli, M., Puligheddu, M., Mollenhauer, B., Trenkwalder, C., Sixel-Doring, F., De Cock, V. C., Monaca, C. C., Heidbreder, A., Ferini-Strambi, L., Dijkstra, F., Viaene, M., Abril, B., Boeve, B. F., Postuma, R. B., Rouleau, G. A., Gan-Or, Z., Salvy-Córdoba, Nathalie, Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], 23andMe Inc., Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Nuffield Department of Clinical Neurosciences [Oxford], University of Oxford, Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM), Centre d'études avancées en Médecine du Sommeil (CEAMS), Université de Montréal (UdeM)-Hôpital du Sacré-Coeur de Montréal, Université du Québec à Montréal = University of Québec in Montréal (UQAM), Hôpital Gui de Chauliac [Montpellier], Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Università degli Studi di Udine - University of Udine [Italie], UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, University of Udine and University Hospital of Udine, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), First Faculty of Medicine Charles University [Prague], Philipps Universität Marburg = Philipps University of Marburg, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Institute of Neurological Sciences of Bologna IRCCS, University of Cagliari, Paracelsus-Elena-Klinik, Kassel, Germany., department of neurology, clinical dementia center and DZNE, goettingen, Allemagne., Georg-August-University = Georg-August-Universität Göttingen, Department of Psychiatry and Psychotherapy, University Medical Center Goettingen (UMG), Göttingen, Clinique Beau Soleil [Montpellier], Euromov (EuroMov), Université de Montpellier (UM), CHU Lille, University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR), Algemeen Ziekenhuis Sint-Dimpna, Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Mayo Clinic [Rochester], Hôpital du Sacré-Coeur de Montréal, and Department of Human Genetics [Montréal]

Subjects
Male, 0301 basic medicine, Aging, REM sleep behavior disorder, Disease, Bioinformatics, European descent, Behavior disorder, 0302 clinical medicine, Medicine, MESH: Genetic Variation, MESH: High-Throughput Nucleotide Sequencing, MESH: Genetic Association Studies, education.field_of_study, General Neuroscience, sphingomyelin phosphodiesterase 1, High-Throughput Nucleotide Sequencing, MESH: Negative Results, MESH: Sleep Wake Disorders, Association study, Sphingomyelin Phosphodiesterase, Female, Sphingomyelin phosphodiesterase 1, Sleep Wake Disorders, Rapid eye movement sleep, Sleep, REM, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, association study, 03 medical and health sciences, Humans, education, Genetic Association Studies, MESH: Humans, business.industry, Dementia with Lewy bodies, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, Genetic Variation, medicine.disease, MESH: Sleep, REM, MESH: Male, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Sphingomyelin Phosphodiesterase, Neurology (clinical), Geriatrics and Gerontology, business, MESH: Female, Negative Results, 030217 neurology & neurosurgery, Developmental Biology
Abstract

International audience; Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson's disease and dementia with Lewy bodies. In the current study, we aimed to evaluate the role of SMPD1 variants in isolated rapid eye movement sleep behavior disorder (iRBD). SMPD1 and its untranslated regions were sequenced using targeted next-generation sequencing in 959 iRBD patients and 1287 controls from European descent. Our study reports no statistically significant association of SMPD1 variants and iRBD. It is hence unlikely that SMPD1 plays a major role in iRBD.

Published
2020

21. Vestibular Evoked Myogenic Potentials Are Abnormal in Idiopathic REM Sleep Behavior Disorder

Author

Beniamina Mercante, Andrea Manca, Franca Deriu, Monica Puligheddu, Ilaria Laccu, Michela Figorilli, Francesca Ginatempo, and Edoardo Rosario de Natale

Subjects
0301 basic medicine, medicine.medical_specialty, Vestibular evoked myogenic potential, REM sleep behavior disorder, Postural instability, Audiology, vestibular evoked myogenic potentials, lcsh:RC346-429, brainstem, 03 medical and health sciences, 0302 clinical medicine, Hyposmia, medicine, Depression (differential diagnoses), lcsh:Neurology. Diseases of the nervous system, Original Research, business.industry, neurodegeneration, medicine.disease, 030104 developmental biology, Neurology, Berg Balance Scale, Reflex, Neurology (clinical), Brainstem, medicine.symptom, neurophysiology, business, 030217 neurology & neurosurgery
Abstract

Objectives: To investigate brainstem function in idiopathic REM sleep Behavior Disorder (iRBD), a condition occurring as a result of a derangement of connections within brainstem structures, with a battery of Vestibular Evoked Myogenic Potentials (VEMPs), neurophysiological tools suited for the functional investigation of the brainstem. Neurophysiological data were correlated with clinical characteristics of patients.Methods: Twenty patients with iRBD and 22 healthy controls underwent cervical (cVEMP), masseter (mVEMP) and ocular (oVEMP) VEMP recording. Patients were assessed clinically according to presence of motor as well as non-motor symptoms such as constipation, depression, and hyposmia. Also, they were screened for postural instability through the Berg Balance Scale (BBS). VEMPs were categorized as for increasing degrees of abnormalities, namely latency delay, amplitude reduction and absence; a VEMP score was built accordingly.Results: Compared with controls, iRBD had higher rates of abnormalities both in the VEMP battery (iRBD 75%, Controls 23%; p < 0.01) as well as in each single VEMP (cVEMP: 45 vs. 5%; mVEMP: 65 vs. 13.6%; oVEMP: 50 vs. 5%; p < 0.01), which exhibited significantly lower amplitudes (cVEMP and oVEMP: p < 0.0001; mVEMP: p = 0.001) in iRBD. Within altered reflexes, absence was predominant in oVEMP (81%), amplitude reduction in mVEMP (50%) and cVEMP (70%). Severity of VEMP alterations was significantly higher in iRBD compared with controls (p < 0.05 for all VEMPs), as indicated by the larger VEMP scores in the former. The oVEMP score correlated inversely with poor performances on the BBS.Conclusion: VEMPs unveil consistent and extensive brainstem abnormalities in iRBD patients. Further studies are warranted for testing the potential of VEMPs in the monitoring of the evolution of iRBD over time.

Published
2018

22. Sleep in Parkinson's Disease with Impulse Control Disorder

Author

Roberto Frau, Patrizia Congiu, Rosa Lecca, Monica Puligheddu, G. Gioi, and Michela Figorilli

Subjects
0301 basic medicine, Sleep Wake Disorders, medicine.medical_specialty, Parkinson's disease, Neurology, Impulse control disorder, Disease, REM Sleep Behavior Disorder, REM sleep behavior disorder, 03 medical and health sciences, 0302 clinical medicine, Restless Legs Syndrome, medicine, Humans, Restless legs syndrome, Risk factor, Psychiatry, Sleep restriction, business.industry, General Neuroscience, Parkinson Disease, medicine.disease, Disruptive, Impulse Control, and Conduct Disorders, 030104 developmental biology, Quality of Life, Neurology (clinical), business, Sleep, 030217 neurology & neurosurgery
Abstract

This paper aims to explore the relationship between impulse-control disorders (ICDs) and sleep problems in patients with Parkinson’s disease (PD) among scientific literature. Previously published results are controversial and sometimes inconclusive. ICDs and sleep disruption represent important non-motor features of Parkinson’s disease, responsible for reducing quality of life and increasing burden of disease. The relationship between sleep problems and ICDs is complex and bidirectional. Indeed, sleep disturbances and fragmentation may play a crucial role in increasing susceptibility to impulsive behavior and may represent a risk factor for developing ICDs in PD patients. Moreover, REM sleep behavior disorder (RBD) and restless legs syndrome (RLS) have been indicated as independent risk factors for ICDs in PD patients. On the other hand, also ICDs may lead to sleep restriction and fragmentation, suggesting a bidirectional relationship. The association between sleep problems and ICDs in PD is far from being completely understood. Further studies are needed to confirm the nature of this relationship and its pathophysiology.

Published
2018

23. Sleep and REM sleep behaviour disorder in Parkinson’s disease with impulse control disorder

Author

Franck Durif, Alessandro Cicolin, Michela Figorilli, Leonardo Lopiano, Maria Livia Fantini, Jean-Christophe Corvol, Eve Benchetrit, Monica Puligheddu, P. Beudin, Bruno Pereira, Maurizio Zibetti, Florence Cormier-Dequaire, Ana Marques, Isabelle Arnulf, Lucette Lacomblez, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Service des Pathologies du sommeil [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Délégation à la Recherche Clinique et à l’Innovation, CHU Clermont-Ferrand, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Fédération des Maladies du Système Nerveux, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Levodopa, Parkinson's disease, Movement disorders, Impulse control disorder, Polysomnography, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Video Recording, REM Sleep Behavior Disorder, REM sleep behavior disorder, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, ComputingMilieux_MISCELLANEOUS, Aged, medicine.diagnostic_test, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SCCO.NEUR]Cognitive science/Neuroscience, Case-control study, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Parkinson Disease, Middle Aged, medicine.disease, Antidepressive Agents, 3. Good health, Disruptive, Impulse Control, and Conduct Disorders, Psychiatry and Mental health, 030104 developmental biology, Case-Control Studies, Dopamine Agonists, Physical therapy, Female, Surgery, Neurology (clinical), Age of onset, medicine.symptom, Sleep, Psychology, 030217 neurology & neurosurgery, medicine.drug
Abstract

IntroductionBecause the association between rapid eye movement sleep behaviour disorder (RBD) and impulse control disorders (ICDs) in Parkinson’s disease (PD) has been debated, we assessed the sleep characteristics and the frequency of RBD using video-polysomnography (v-PSG) in patients with PD with versus without ICDs.MethodsEighty non-demented patients with PD consecutively identified during routine evaluation at three movement disorders centres were enrolled in a case–control study. Forty patients (22 men; mean age: 62.6±9.7 years, Hoehn & Yahr: 2.1±0.6) with one or more current ICDs were age-matched and sex-matched with 40 patients with no history of ICDs (22 men, mean age: 64.9±7.8 years, Hoehn & Yahr: 2.2±0.6). They underwent a detailed sleep interview followed by a full-night in-lab v-PSG. Sleep was scored blindly to ICDs condition and RBD diagnosis included a clinical complaint of enacted dreams and/or documented behaviour during rapid eye movement (REM) sleep, with the presence of quantified REM sleep without atonia (RSWA).ResultsPatients with ICDs had a higher arousal index and higher RSWA than those without ICDs (51.9%±28.2%vs 32.2±27.1%, p=0.004). In addition, RBD was more frequent in the ICD group (85%vs53%, p=0.0001). RBD was still associated with ICDs in a multivariate regression analysis including age of onset, PD duration and severity, treatment duration, levodopa-equivalent and dopamine agonist-equivalent daily doses and antidepressant use (OR: 4.9 (95% CI 1.3 to 18.5), p=0.02).ConclusionsThis large, controlled series of patients with PD with ICDs assessed by v-PSG confirms the association between ICDs and RBD. Increased surveillance of symptoms of ICDs should be recommended in patients with PD with RBD.

Published
2018

24. Restless Legs Syndrome/Willis–Ekbom Disease and Periodic Limb Movements in Sleep in the Elderly with and without Dementia

Author

Michela Figorilli, Raffaele Ferri, and Monica Puligheddu

Subjects
medicine.medical_specialty, health care facilities, manpower, and services, Disease, Nocturnal Myoclonus Syndrome, Quality of life, Restless Legs Syndrome, mental disorders, medicine, Humans, Dementia, Restless legs syndrome, Aged, business.industry, Public health, social sciences, General Medicine, medicine.disease, Sleep in non-human animals, humanities, Psychiatry and Mental health, Clinical Psychology, Neuropsychology and Physiological Psychology, Physical therapy, Willis-Ekbom disease, Neurology (clinical), Cognition Disorders, business
Abstract

There is great interest in the study of sleep in healthy and cognitively impaired elderly. Sleep disorders have been related to quality of aging. Sleep-related movements are a frequent cause of disordered sleep and daytime sleepiness. Restless legs syndrome/Willis-Ekbom disease (RLS/WED) is often unrecognized in the elderly. This review explores RLS/WED in the elderly population. The elderly population may be subdivided into 3 groups: healthy, dependent, and frail. The RLS/WED could be a predictor for lower physical function; its burden on quality of life and health care-related costs, in the elderly, should be an important clinical and public health concern.

Published
2015

25. Comparison Between Automatic and Visual Scorings of REM Sleep Without Atonia for the Diagnosis of REM Sleep Behavior Disorder in Parkinson Disease

Author

Raffaele Ferri, Ana Marques, P. Beudin, Leonardo Lopiano, F. Durif, Maurizio Zibetti, Alessandro Cicolin, Michela Figorilli, Maria Livia Fantini, Monica Puligheddu, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), and CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])

Subjects
Male, medicine.medical_specialty, REM sleep atonia index, genetic structures, First line, Montréal method, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Polysomnography, Video Recording, Sleep, REM, Electromyography, Disease, REM Sleep Behavior Disorder, Audiology, REM sleep behavior disorder, 03 medical and health sciences, 0302 clinical medicine, Parkinson disease, REM sleep without Atonia, SINBAR method, Aged, Female, Humans, Middle Aged, Parkinson Disease, ROC Curve, Muscle Hypotonia, Neurology (clinical), Physiology (medical), medicine, ComputingMilieux_MISCELLANEOUS, medicine.diagnostic_test, Receiver operating characteristic, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SCCO.NEUR]Cognitive science/Neuroscience, Eye movement, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, medicine.disease, 030228 respiratory system, REM, Psychology, Sleep, 030217 neurology & neurosurgery, Visual methods
Abstract

Study objectives To compare three different methods, two visual and one automatic, for the quantification of rapid eye movement (REM) sleep without atonia (RSWA) in the diagnosis of REM sleep behavior disorder (RBD) in Parkinson's disease (PD) patients. Methods Sixty-two consecutive patients with idiopathic PD underwent video-polysomnographic recording and showed more than 5 minutes of REM sleep. The electromyogram during REM sleep was analyzed by means of two visual methods (Montreal and SINBAR) and one automatic analysis (REM Atonia Index or RAI). RBD was diagnosed according to standard criteria and a series of diagnostic accuracy measures were calculated for each method, as well as the agreement between them. Results RBD was diagnosed in 59.7% of patients. The accuracy (85.5%), receiver operating characteristic (ROC) area (0.833) and Cohen's K coefficient (0.688) obtained with RAI were similar to those of the visual parameters. Visual tonic parameters, alone or in combination with phasic activity, showed high values of accuracy (93.5-95.2%), ROC area (0.92-0.94), and Cohen's K (0.862-0.933). Similarly, the agreement between the two visual methods was very high, and the agreement between each visual methods and RAI was substantial. Visual phasic measures alone performed worse than all the other measures. Conclusion The diagnostic accuracy of RSWA obtained with both visual and automatic methods was high and there was a general agreement between methods. RAI may be used as the first line method to detect RSWA in the diagnosis of RBD in PD, together with the visual inspection of video-recorded behaviors, while the visual analysis of RSWA might be used in doubtful cases.

Published
2017

26. F-Wave Duration as a Specific and Sensitive Tool for the Diagnosis of Restless Legs Syndrome/Willis-Ekbom Disease

Author

Giulia Milioli, Paolo Tacconi, G. Gioi, Francesco Marrosu, Monica Puligheddu, Michela Figorilli, Maria Livia Fantini, Patrizia Congiu, Liborio Parrino, Bruno Pereira, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Délégation à la Recherche Clinique et à l’Innovation, and CHU Clermont-Ferrand

Subjects
Pulmonary and Respiratory Medicine, Adult, Male, medicine.medical_specialty, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Neural Conduction, Electromyography, Sensitivity and Specificity, 050105 experimental psychology, F wave, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Restless Legs Syndrome, mental disorders, medicine, Humans, 0501 psychology and cognitive sciences, Restless legs syndrome, ComputingMilieux_MISCELLANEOUS, Aged, Leg, medicine.diagnostic_test, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, 05 social sciences, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Middle Aged, medicine.disease, Scientific Investigations, Pathophysiology, nervous system diseases, body regions, Neurology, Duration (music), Cardiology, Willis-Ekbom disease, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Restless legs syndrome, also known as Willis-Ekbom disease (RLS/WED), is a frequent condition, though its pathophysiology is not completely understood. The diagnosis of RLS/WED relies on clinical criteria, and the only instrumental tool, the suggested immobilization test, may lead to equivocal results. Recently, neurophysiological parameters related to F-wave duration have been proposed as a diagnostic aid. The aim of this study is to assess and compare the diagnostic values of these parameters in diagnosis of RLS/WED.Fifteen women affected by primary RLS/WED and 17 age- and sex- matched healthy subjects. A complete electroneurographic evaluation, including nerve conduction studies (NCS), cutaneous silent period (CSP), and F-wave parameters, namely amplitude, F-wave duration (FWD), and the ratio between FWD and duration of the corresponding compound muscle action potential (FWD/CMAPD).No subject showed alterations of the NCS. However, FWD and FWD/CMAPD of both upper and lower limbs were significantly longer in patients than controls. Tibial FWD/CMAPD best discriminated RLS/WED patients from controls. A cutoff of 2.06 yielded a sensitivity of 69.2%, a specificity of 94.1%, a positive predictive power of 90%, and a negative predictive power of 80% (area under the curve = 0.817; 95% confidence interval = 0.674-0.959). The combination of ulnar or tibial FWD/CMAPD increases the sensitivity (85.7%) while slightly decreasing the specificity (87.5%, positive predictive value: 85.7%, negative predictive value: 87.5%).Lower limb FWD/CMAPD ratio may represent a supportive diagnostic tool, especially in cases of evening lower leg discomfort of unclear interpretation.

Published
2017

27. Joint Congress of European Neurology 31 May–3 June 2014 Istanbul, Turkey

Author

Martina Stracuzzi, Mauro Manconi, Eleonora Tobaldini, Sebastian Robert Ott, Claudio L. Bassetti, Nicola Montano, Paola Proserpio, Lino Nobili, Michela Figorilli, V. D. Scigliano, Valentina Oppo, and Elio Agostoni

Subjects
medicine.medical_specialty, Neurology, business.industry, Sleep in non-human animals, Internal medicine, Cohort, medicine, Cardiology, In patient, Neurology (clinical), Autonomic modulation, business, Acute ischemic stroke
Published
2014

28. Sleep Related Hypermotor Seizures with a Right Parietal Onset

Author

Lino Nobili, Paola Proserpio, Giuseppe Casaceli, Steve A. Gibbs, and Michela Figorilli

Subjects
Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Neurology, Adolescent, Polysomnography, Case Reports, Audiology, Electroencephalography, Nocturnal frontal lobe epilepsy, Diagnosis, Differential, Seizures, Parietal Lobe, Diagnosis, medicine, Humans, Parietal lobe epilepsy, medicine.diagnostic_test, business.industry, Parietal lobe, Cortical dysplasia, Paroxysmal arousal, medicine.disease, Magnetic Resonance Imaging, Sleep in non-human animals, Hypermotor seizure, Differential, Neurology (clinical), Differential diagnosis, Sleep, business
Abstract

Nocturnal frontal lobe epilepsy (NFLE) is a syndrome characterized by the occurrence of sleep related seizures of variable complexity and duration. Hypermotor seizures (HMS) represent a classic manifestation of this syndrome, associated with a perturbation of the ventromesial frontal cortex and anterior cingulate gyrus regions. Nevertheless, in recent years, reports have showed that the seizure onset zone (SOZ) need not be of frontal origin to generate HMS. Here we report an unusual case of a patient presenting with a seven-year history of drug-resistant sleep related HMS arising from the mesial parietal region. The presence of an infrequent feeling of levitation before the HMS was key to suspecting a subtle focal cortical dysplasia in the right precuneus region. A stereo-EEG investigation confirmed the extra-frontal seizure onset of the HMS and highlighted the interrelationship between unstable sleep and seizure precipitation.

Published
2015

29. Clinical manifestations of intermediate allele carriers in Huntington disease

Author

Cubo E., Ramos-Arroyo M. A., Martinez-Horta S., Martinez-Descalls A., Calvo S., Gil-Polo CAnne-Catherine Bachoud-Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael M Bonelli, Jean-Marc Burgunder, Stephen B Dunnett, Joaquim J Ferreira, Olivia J Handley, Arvid Heiberg, Torsten Illmann, G Bernhard Landwehrmeyer, Jamie Levey, Maria Ramos-Arroyo, Jørgen E Nielsen, Susana Pro Koivisto, Markku Päivärinta, Raymund A C Roos, Ana Rojo Sebastián, Sarah J Tabrizi, Wim Vandenberghe, Christine Verellen-Dumoulin, Tereza Uhrova, Jan Wahlström, Jacek Zaremba, Verena Baake, Katrin Barth, Adrien Come, Leonor Correia Guedes, Ana Maria Finisterra, Monica Bascuñana Garde, Reineke Bos, Sabrina Betz, Jenny Callaghan, Selene Capodarca, Sébastien Charpentier, Wildson Vieira da Silva, Martina Di Renzo, Daniel Ecker, Ruth Fullam, Camille Genoves, Mette Gilling, Carina Hvalstedt, Christine Held, Andrea Horta-Barba, Kerstin Koppers, Claudia Lamanna, Matilde Laurà, Asunción Martínez Descals, Saul Martinez-Horta, Tiago Mestre, Sara Minster, Daniela Monza, Lisanne Mütze, Martin Oehmen, Helene Padieu, Laurent Paterski, Nadia Peppa, Beate Rindal, Dawn Rogers, Niini Røren, Pavla Šašinková, Yuri Seliverstov, Catherine Taylor, Erika Timewell, Jenny Townhill, Patricia Trigo Cubillo, Marleen R van Walsem, Marie-Noelle Witjes-Ané, Grzegorz Witkowski, Abigail Wright, Elizaveta Yudina, Daniel Zielonka, Eugeniusz Zielonka, Paola Zinzi, Cécile Minet, Pascale Ribaï, Dominique Van Paemel, Lena Hjermind, Oda Jacobsen, Suzanne Lindquist, Jørgen Nielsen, Lisbeth Regeur, Jette Stockholm, Ida Unmack Larsen, Christina Vangsted-Hansen, Tua Vinther-Jensen, Pia Eklund, Heli Hiivola, Hannele Hypponen, Kirsti Martikainen, Katri Tuuha, Philippe Allain, Dominique Bonneau Marie Bost, Bénédicte Gohier, Marie-Anne Guérid, Audrey Olivier, Julie Prouzet, Adriana Prundean, Clarisse Scherer-Gagou, Christophe Verny, Blandine Babiloni, Sabrina Debruxelles, Charlotte Duché, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Anne-Catherine Bachoud-Lévi, Farideh Badei, Lotfi Boudali, Catherine Bourdet, Laurent Cléret, Maryline Couette, Cécile Focseneanu, Laurie Lemoine, Graça Morgado, Mehdi Sebaiti, Claire Thiriez, Laetitia Vervoitte, Katia Youssov, Jean-Philippe Azulay, Christelle Chabot, Marie Delfini, Alexandre Eusebio, Frédérique Fluchere, Christine Garreau, Aicha Ghenam, Hélène Grosjean, Laura Mundler, Marielle Nowak, Roland Raseta, Maïté Bertrand, Fabienne Calvas, Samia Cheriet, Laurent Marquine, Michèle Pierre, Jérémie Pariente, Sandrine Rolland, Alice Seris, Valérie Vaquie, Christoph Michael Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Christian Sass, Johannes Schiefer, Christiane Schlangen, Cornelius J Werner, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara Kaminski, Carsten Saft, Kai Boelmans, Christos Ganos, Ines Goerendt, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Michael Orth, Jenny Schmalfeld, Lars Stubbe, Simone Zittel, Gabriele Diercks, Dirk Dressler, Flverly Francis, Sabine Gayde-Stephan, Heike Gorzolla, Bianca Kramer, Rebecca Minschke, Christoph Schrader, Pawel Tacik, Natalie Bechtel, Heike Beckmann, Stefan Bohlen, Nicole Göpfert, Eva Hölzner, Herwig Lange, Ralf Reilmann, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Nathalia Weber, Michael Bachmeier, Matthias Dose, Nina Hofstetter, Ralf Marquard, Alzbeta Mühlbäck, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Bernhard Landwehrmeyer, Franziska Lezius, Solveig Nepper, Anke Niess, Ariane Schneider, Daniela Schwenk, Sigurd Süssmuth, Sonja Trautmann, Patrick Weydt, Stephan Klebe, Thomas Musacchio, Christine Leypold, Kerstin Nöth, Claudia Cormio, Marina de Tommaso, Anna Rita Dellomonaco, Olimpia Difruscolo, Giovanni Franco, Vittorio Sciruicchio, Claudia Serpino, Michela Figorilli, Francesco Marrosu, Antonella Muroni, Valeria Piras, Melisa Vacca, Caterina Bartoli, Elisabetta Bertini, Fernanda Fortunato, Elena Ghelli, Andrea Ginestroni, Claudia Mechi, Marco Paganini, Silvia Piacentini, Silvia Pradella, Anna Maria Romoli, Sandro Sorbi, Giuseppe De Michele, Luigi Di Maio, Carlo Rinaldi, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Pierpaolo Sorrentino, Elena Salvatore, Tecla Tucci, Milena Cannella, Valentina Codella, Francesca De Gregorio, Annunziata De Nicola, Francesca Elifani, Tiziana Martino, Francesca Lovo, Irene Mazzante, Martina Petrollini, Maria Simonelli, Ferdinando Squitieri, Maurizio Vezza, Barbara D'Alessio, Chiara Esposito, Giulia Coarelli, Michela Ferraldeschi, Marina Frontali, Gioia Jacopini, Giovanni Ristori, Silvia Romano, Monique S E van Hout, Jeroen P P van Vugt, A Marit de Weert, Marloes Verhoeven, Simon J A van den Bogaard, Eve M Dumas, Ellen P 't Hart, Milou Jacobs, Anne Kampstra, Anne Schoonderbeek, Nils Olav Aanonsen, Olaf Aaserud, Liv Barnett, Kathrine Bjørgo, Nancy Borgerød, Elisabeth Dramstad, Madeleine Fannemel, Jan Frich, Helen Gundersen, Per Gørvell, Kathrine Haggag, Cecilie Haggag Johannessen, Lars Retterstøl, Oddveig Rosby, Jutta Rummel, Alma Sikiric, Olga Solberg, Marleen van Walsem, Ragnhild Wehus, Artur Dziadkiewicz, Agnieszka Konkel, Ewa Narożańska, Malgorzata Nowak, Piotr Robowski, Emilia Sitek, Jaroslaw Slawek, Witold Soltan, Michal Szinwelski, Michał Arkuszewski, Magdalena Błaszczyk, Magdalena Boczarska-Jedynak, Ewelina Ciach-Wysocka, Agnieszka Gorzkowska, Barbara Jasińska-Myga, Aleksandra Kaczmarczyk, Gabriela Kłodowska-Duda, Grzegorz Opala, Monika Rudzińska, Daniel Stompel, Krzysztof Banaszkiewicz, Dorota Boćwińska, Kamila Bojakowska-Jaremek, Małgorzata Dec, Natalia Grabska, Malgorzata Krawczyk, Ewelina Kubowicz, Michalina Malec-Litwinowicz, Agata Stenwak, Andrzej Szczudlik, Elżbieta Szczygieł, Magdalena Wójcik, Anna Wasielewska, Jacek Anioła Anna Bryl, Anna Ciesielska, Aneta Klimberg, Jerzy Marcinkowski, Husam Samara, Justyna Sempołowicz, Bartłomiej Wiśniewski, Anna Gogol, Piotr Janik, Zygmunt Jamrozik, Anna Kaminska, Hubert Kwiecinski, Jakub Antczak, Katarzyna Jachinska, Wioletta Krysa, Maryla Rakowicz, Przemyslaw Richter, Rafal Rola, Danuta Ryglewicz, Halina Sienkiewicz-Jarosz, Iwona Stępniak, Anna Sułek, Elzbieta Zdzienicka, Karolina Ziora-Jakutowicz, Cristina Januário, Filipa Júlio, Ana Salgueiro, Miguel Coelho, Tiago Mendes, Mário Miguel Rosa, Anabela Valadas, Cristina Semedo, Ana Calado, Joana Morgado, Margarida Dias, Manuel Almeida, Carmen Durán Herrera, Patrocinio Garcia Moreno, Jordi Bas, Núria Busquets, Matilde Calopa, Serge Jaumà Classen, Nadia Rodríguez Dedichá, Miquel Aguilar Barbera, Sonia Arribas Pardo, Dolors Badenes Guia, Noemi Calzado, Laura Casas Hernanz, Juan Pablo Tartari Díaz-Zorita, Judit López Catena, Pilar Quiléz Ferrer, Gemma Tome Carruesco, Misericordia Floriach Robert, Cèlia Mareca Viladrich, Elvira Roca, Jesús Miguel Ruiz Idiago, Antonio Villa Riballo, Antonia Campolongo, Ramon Fernandez de Bobadilla, Jaime Kulisevsky Bojarsky, Javier Pagonabarraga, Jesus Perez Perez, Carolina Villa, Maria Angeles Acera Gil, Koldo Berganzo Corrales, Juan Carlos Gomez Esteban, Amaia González, Beatriz Tijero Merino, Esther Cubo, Natividad Mariscal, Sandra Gutierrez Romero, José Matías Arbelo, Rocío Malo de Molina, Idaira Martín, Juan Manuel Periañez, Beatriz Udaeta, Fernando Alonso-Frech, Belén Frades, Marina Ávila Villanueva, Maria Ascension Zea Sevilla, Fernando Alonso Frech, María Del Mar Fenollar, Rocío García-Ramos García, Clara Villanueva, Mónica Bascuñana, Marta Fatás Ventura, Juan García Caldentey, Guillermo García Ribas, Justo García de Yébenes, José Luis López-Sendón Moreno, Verónica Mañanes Barral, Cici Feliz Feliz, Pedro José García Ruíz, Ana García, Rosa Guerrero López, Antonio Herranz Bárcenas, Asunción Martínez-Descals, Angel Martínez Pueyo, Veronica Puertas Martin, Noelia Rodríguez Martínez, María José Sainz Artiga, Vicenta Sánchez, Javier Del Val Fernandez, Carmen Antúnez Almagro, Salvadora Manzanares, Juan Marín Muñoz, María Martirio Antequera Torres, Fuensanta Noguera Perea, Laura Vivancos Moreau, Sonia González, Luis Menéndez Guisasola, Carlos Salvador, René Ribacoba, Pablo Sánchez Lozano, Marta Para Prieto, Aránzazu Gorospe, Inés Legarda Ramirez, Penelope Navas Arques, Monica Rodriguez Lopera, Barbara Vives Pastor, Itziar Gaston, Maria Antonia Ramos-Arroyo, Maria Dolores Martinez-Jaurrieta, José Manuel García Moreno, Carolina Mendez Lucena, José Chacón Peña, Fátima Damas Hermoso, Eva Pacheco Cortegana, Luis Redondo, Cristina Melgar Fernandez, Maite Paredes Mata, Maria Dolores Romero Lemos, Maria Bosca, Juan Andres Burguera, Francisco Castera Brugada Carmen Peiró Vilaplana, Elena Bellosta Diago, Javier López Del Val, Laura Martinez Martinez, Elena López, Peter Berglund, Radu Constantinescu, Gunnel Fredlund, Ulrika Høsterey-Ugander, Liselotte Neleborn-Lingefjärd, Yanik Stebler, Alain Kaelin, Irene Romero, Michael Schüpbach, Sabine Weber Zaugg, Lorna Downie, Roisin Jack, Kirsty Matheson, Zosia Miedzybrodzka, Daniela Rae, Sheila A Simpson, Fiona Summers, Alexandra Ure, Vivien Vaughn, Shahbana Akhtar, Jenny Crooks, Adrienne Curtis, Jenny de Souza, John Piedad, Hugh Rickards, Jan Wright, Elizabeth Coulthard, Louise Gethin, Beverley Hayward, Kasia Sieradzan, Monica Busse, Cynthia Butcher, Stephen Dunnett, Catherine Clenaghan, Sarah Hunt, Lesley Jones, Una Jones, Hanan Khalil, Michael Owen, Kathleen Price, Anne Rosser, Peter Brockie, Jillian Foster, Nicola Johns, Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates, Alyson Andrew, Julie Frost, Rupert Noad, Jeremy Cosgrove, Deena Gallantree, Stephanie Hamer, Emma Hobson, Stuart Jamieson, Alison Kraus, Mandy Longthorpe, Ivana Markova, Hannah Musgrave, Caroline Peacy, Ashok Raman, Liz Rowett, Jean Toscano, Sue Wild, Carole Clayton, Pam Yardumian, Heather Dipple, Dawn Freire- Patino, Caroline Hallam, Julia Middleton, Uruj Anjum, Jan Coebergh, Charlotte Eddy, Nayana Lahiri, Meriel McEntagart, Michael Patton, Maria Peterson, Sarah Rose, Thomasin Andrews, Stefanie Brown, Stefania Bruno, Elvina Chu, Karen Doherty, Charlotte Golding, Salman Haider, Davina Hensman, Monica Lewis, Marianne Novak, Aakta Patel, Joy Read, Nicola Robertson, Elisabeth Rosser, Sarah Tabrizi, Rachel Taylor, Thomas Warner, Edward Wild, Natalie Arran, Judith Bek, David Craufurd, Marianne Hare, Liz Howard, Susan Huson, Liz Johnson, Mary Jones, Ashok Krishnamoorthy, Helen Murphy, Emma Oughton, Lucy Partington-Jones, Andrea Sollom, Julie Snowden, Cheryl Stopford, Jennifer Thompson, Iris Trender-Gerhard, Nichola Verstraelen, Leann Westmoreland, Ginette Cass, Lynn Davidson, Jill Davison, Neil Fullerton, Katrina Holmes, Suresh Komati, Sharon McDonnell, Zeid Mohammed, Karen Morgan, Lois Savage, Baldev Singh, Josh Wood, Andrea H Nemeth, Gill Siuda, Ruth Valentine, Kathryn Dixon, Richard Armstrong, David Harrison, Max Hughes, Sandra Large, John O Donovan, Amy Palmer, Andrew Parkinson, Beverley Soltysiak, Leanne Timings, Josh Williams, Oliver Bandmann, Alyson Bradbury, Helen Fairtlough, Kay Fillingham, Isabella Foustanos, Paul Gill, Mbombe Kazoka, Kirsty O'Donovan, Louise Nevitt, Oliver Quarrell, Cat Taylor, Katherine Tidswell, Lesley Gowers, Kingsley Powell, Pamela Bethwaite, Rachel Edwards, Kathleen Fuller, Michelle Phillips, Univ Angers, Okina, E., Cubo, M. A., Ramos-Arroyo, S., Martinez-Horta, A., Martinez-Descall, S., Calvo, CAnne-Catherine Bachoud-Lévi, Gil-Polo, Rita Bentivoglio, Anna, Biunno, Ida, M Bonelli, Raphael, Burgunder, Jean-Marc, B Dunnett, Stephen, J Ferreira, Joaquim, J Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Bernhard Landwehrmeyer, G, Levey, Jamie, Ramos-Arroyo, Maria, E Nielsen, Jørgen, Pro Koivisto, Susana, Päivärinta, Markku, C Roos, Raymund A, Rojo Sebastián, Ana, J Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Come, Adrien, Correia Guedes, Leonor, Maria Finisterra, Ana, Bascuñana Garde, Monica, Bos, Reineke, Betz, Sabrina, Callaghan, Jenny, Capodarca, Selene, Charpentier, Sébastien, Vieira da Silva, Wildson, Di Renzo, Martina, Ecker, Daniel, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Hvalstedt, Carina, Held, Christine, Horta-Barba, Andrea, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Martínez Descals, Asunción, Martinez-Horta, Saul, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Peppa, Nadia, Rindal, Beate, Rogers, Dawn, Røren, Niini, Šašinková, Pavla, Seliverstov, Yuri, Taylor, Catherine, Timewell, Erika, Townhill, Jenny, Trigo Cubillo, Patricia, R van Walsem, Marleen, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Yudina, Elizaveta, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Hjermind, Lena, Jacobsen, Oda, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Stockholm, Jette, Unmack Larsen, Ida, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Eklund, Pia, Hiivola, Heli, Hypponen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau Marie Bost, Dominique, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Bachoud-Lévi, Anne-Catherine, Badei, Farideh, Boudali, Lotfi, Bourdet, Catherine, Cléret, Laurent, Couette, Maryline, Focseneanu, Cécile, Lemoine, Laurie, Morgado, Graça, Sebaiti, Mehdi, Thiriez, Claire, Vervoitte, Laetitia, Youssov, Katia, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Garreau, Christine, Ghenam, Aicha, Grosjean, Hélène, Mundler, Laura, Nowak, Marielle, Raseta, Roland, Bertrand, Maïté, Calvas, Fabienne, Cheriet, Samia, Marquine, Laurent, Pierre, Michèle, Pariente, Jérémie, Rolland, Sandrine, Seris, Alice, Vaquie, Valérie, Michael Kosinski, Christoph, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, J Werner, Corneliu, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Saft, Carsten, Boelmans, Kai, Ganos, Christo, Goerendt, Ine, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Stubbe, Lar, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Lange, Herwig, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthia, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Klebe, Stephan, Musacchio, Thoma, Leypold, Christine, Nöth, Kerstin, Cormio, Claudia, de Tommaso, Marina, Rita Dellomonaco, Anna, Difruscolo, Olimpia, Franco, Giovanni, Sciruicchio, Vittorio, Serpino, Claudia, Figorilli, Michela, Marrosu, Francesco, Muroni, Antonella, Piras, Valeria, Vacca, Melisa, Bartoli, Caterina, Bertini, Elisabetta, Fortunato, Fernanda, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Maria Romoli, Anna, Sorbi, Sandro, DE MICHELE, Giuseppe, Di Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, CINZIA VALERIA, Sorrentino, Pierpaolo, Salvatore, Elena, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Martino, Tiziana, Lovo, Francesca, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Squitieri, Ferdinando, Vezza, Maurizio, D'Alessio, Barbara, Esposito, Chiara, Coarelli, Giulia, Ferraldeschi, Michela, Frontali, Marina, Jacopini, Gioia, Ristori, Giovanni, Romano, Silvia, E van Hout, Monique S, P van Vugt, Jeroen P, Marit de Weert, A, Verhoeven, Marloe, A van den Bogaard, Simon J, M Dumas, Eve, P 't Hart, Ellen, Jacobs, Milou, Kampstra, Anne, Schoonderbeek, Anne, Olav Aanonsen, Nil, Aaserud, Olaf, Barnett, Liv, Bjørgo, Kathrine, Borgerød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan, Gundersen, Helen, Gørvell, Per, Haggag, Kathrine, Haggag Johannessen, Cecilie, Retterstøl, Lar, Rosby, Oddveig, Rummel, Jutta, Sikiric, Alma, Solberg, Olga, van Walsem, Marleen, Wehus, Ragnhild, Dziadkiewicz, Artur, Konkel, Agnieszka, Narożańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Kłodowska-Duda, Gabriela, Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elżbieta, Wójcik, Magdalena, Wasielewska, Anna, Anioła Anna Bryl, Jacek, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stępniak, Iwona, Sułek, Anna, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Salgueiro, Ana, Coelho, Miguel, Mendes, Tiago, Miguel Rosa, Mário, Valadas, Anabela, Semedo, Cristina, Calado, Ana, Morgado, Joana, Dias, Margarida, Almeida, Manuel, Durán Herrera, Carmen, Garcia Moreno, Patrocinio, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Jaumà Classen, Serge, Rodríguez Dedichá, Nadia, Aguilar Barbera, Miquel, Arribas Pardo, Sonia, Badenes Guia, Dolor, Calzado, Noemi, Casas Hernanz, Laura, Pablo Tartari Díaz-Zorita, Juan, López Catena, Judit, Quiléz Ferrer, Pilar, Tome Carruesco, Gemma, Floriach Robert, Misericordia, Mareca Viladrich, Cèlia, Roca, Elvira, Miguel Ruiz Idiago, Jesú, Villa Riballo, Antonio, Campolongo, Antonia, Fernandez de Bobadilla, Ramon, Kulisevsky Bojarsky, Jaime, Pagonabarraga, Javier, Perez Perez, Jesu, Villa, Carolina, Angeles Acera Gil, Maria, Berganzo Corrales, Koldo, Carlos Gomez Esteban, Juan, González, Amaia, Tijero Merino, Beatriz, Cubo, Esther, Mariscal, Natividad, Gutierrez Romero, Sandra, Matías Arbelo, José, Malo de Molina, Rocío, Martín, Idaira, Manuel Periañez, Juan, Udaeta, Beatriz, Alonso-Frech, Fernando, Frades, Belén, Ávila Villanueva, Marina, Ascension Zea Sevilla, Maria, Alonso Frech, Fernando, Del Mar Fenollar, María, García-Ramos García, Rocío, Villanueva, Clara, Bascuñana, Mónica, Fatás Ventura, Marta, García Caldentey, Juan, García Ribas, Guillermo, García de Yébenes, Justo, Luis López-Sendón Moreno, José, Mañanes Barral, Verónica, Feliz Feliz, Cici, José García Ruíz, Pedro, García, Ana, Guerrero López, Rosa, Herranz Bárcenas, Antonio, Martínez-Descals, Asunción, Martínez Pueyo, Angel, Puertas Martin, Veronica, Rodríguez Martínez, Noelia, José Sainz Artiga, María, Sánchez, Vicenta, Del Val Fernandez, Javier, Antúnez Almagro, Carmen, Manzanares, Salvadora, Marín Muñoz, Juan, Martirio Antequera Torres, María, Noguera Perea, Fuensanta, Vivancos Moreau, Laura, González, Sonia, Menéndez Guisasola, Lui, Salvador, Carlo, Ribacoba, René, Sánchez Lozano, Pablo, Para Prieto, Marta, Gorospe, Aránzazu, Legarda Ramirez, Iné, Navas Arques, Penelope, Rodriguez Lopera, Monica, Vives Pastor, Barbara, Gaston, Itziar, Antonia Ramos-Arroyo, Maria, Dolores Martinez-Jaurrieta, Maria, Manuel García Moreno, José, Mendez Lucena, Carolina, Chacón Peña, José, Damas Hermoso, Fátima, Pacheco Cortegana, Eva, Redondo, Lui, Melgar Fernandez, Cristina, Paredes Mata, Maite, Dolores Romero Lemos, Maria, Bosca, Maria, Andres Burguera, Juan, Castera Brugada Carmen Peiró Vilaplana, Francisco, Bellosta Diago, Elena, López Del Val, Javier, Martinez Martinez, Laura, López, Elena, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Neleborn-Lingefjärd, Liselotte, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Weber Zaugg, Sabine, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, A Simpson, Sheila, Summers, Fiona, Ure, Alexandra, Vaughn, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Andrew, Alyson, Frost, Julie, Noad, Rupert, Cosgrove, Jeremy, Gallantree, Deena, Hamer, Stephanie, Hobson, Emma, Jamieson, Stuart, Kraus, Alison, Longthorpe, Mandy, Markova, Ivana, Musgrave, Hannah, Peacy, Caroline, Raman, Ashok, Rowett, Liz, Toscano, Jean, Wild, Sue, Clayton, Carole, Yardumian, Pam, Dipple, Heather, Freire- Patino, Dawn, Hallam, Caroline, Middleton, Julia, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, Mcentagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Brown, Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Golding, Charlotte, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Read, Joy, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, Mcdonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Loi, Singh, Baldev, Wood, Josh, H Nemeth, Andrea, Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, O Donovan, John, Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Cubo, E., Ramos-Arroyo, M. A., Martinez-Horta, S., Martinez-Descalls, A., Russo, C. V., Calvo, S., Gil-Polo, C., Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Ramos-Arroyo, María A., Martínez-Descalls, Asunción, Calvo, Sara, and Gil-Polo, Cecilia

Subjects
0301 basic medicine, Registrie, Adult, Male, medicine.medical_specialty, Aging, Heterozygote, Genetic counseling, Motor Disorders, Disease, Severity of Illness Index, 03 medical and health sciences, Cognition Disorder, 0302 clinical medicine, Trinucleotide Repeats, Internal medicine, medicine, Humans, Registries, Allele, Motor Disorder, Alleles, Huntingtin Protein, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Medicine (all), Trinucleotide Repeat, Cognition, Genetic Status, Middle Aged, Phenotype, Europe, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Huntington Disease, Case-Control Studies, Cohort, medicine (all), neurology (clinical), controlled clinical trial (topic), Quality of Life, Female, Neurology (clinical), business, Case-Control Studie, Cognition Disorders, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Human
Abstract

International audience; OBJECTIVE: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry.METHODS: We assessed a cohort of participants at risk with RESULTS: Of 12,190 participants, 657 (5.38%) with CONCLUSIONS: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling.CLINICALTRIALSGOV IDENTIFIER: NCT01590589.

Published
2016

30. Troubles du contrôle des impulsions et syndrome des jambes sans repos dans la maladie de Parkinson : étude transversale

Author

P. Beudin, Michela Figorilli, F. Durif, A. Marques, B. Debilly, Philippe Derost, Maria Livia Fantini, Tiphaine Vidal, and Bruno Pereira

Subjects
Behavioral Neuroscience, Neuropsychology and Physiological Psychology, Neurology, Cognitive Neuroscience, Neurology (clinical)
Abstract

Objectif Bien que le traitement dopaminergique continu soit le facteur de risque principal d’apparition de troubles du controle des impulsions (TCI) dans la maladie de Parkinson Idiopathique (MPI), d’autres facteurs de risque non pharmacologiques ont ete identifies. Notre objectif est de determiner si le syndrome des jambes sans repos (SJSR), dont l’association avec des choix plus impulsifs a ete rapportee dans la population generale, independamment du traitement dopaminergique, pourrait etre associe a un profil psycho-comportemental particulier et a des TCI dans la MPI. Methodes Quatre-vingt patients parkinsoniens consecutifs ont ete inclus et evalues pour la presence de SJSR. Les parametres du sommeil ont ete etudies au cours d’une video-polysomnographie. Nous avons compare la frequence des TCI et d’un large eventail de caracteristiques psycho-comportementales entre les patients avec SJSR (MPI-SJSR, n = 30) et sans SJSR (MPI-nSJSR, n = 50). Resultats Les patients MPI-SJSR presentaient plus de TCI que les MPI-nSJSR (50 % versus 26 %, p = 0,03), notamment des compulsions alimentaires, ainsi qu’un profil psycho-comportemental different avec plus de comportements hyper dopaminergiques. Les analyses multivariees et le score de propension, controlant les facteurs de confusion tels que l’âge, le sexe, le temps total de sommeil, la duree et la dose de traitement dopaminergique, ont montre que la presence de SJSR etait un predicteur independant de la presence de TCI dans la MPI (OR = 5,79 [1,63 ; 20,5] et OR = 4,89 [2,27 ; 11]). Conclusion Le SJSR pourrait etre per se un facteur de risque supplementaire de comportements impulsifs dans la MPI.

Published
2018

31. Les critères diagnostiques du TCSP sont-ils appropriés chez les patients parkinsoniens ? Une étude par modèle des classes latentes

Author

Alessandro Cicolin, F. Durif, P. Beudin, A. Marques, C. Lambert, Leonardo Lopiano, Monica Puligheddu, M.L. Fantini, Maurizio Zibetti, and Michela Figorilli

Subjects
Behavioral Neuroscience, Neuropsychology and Physiological Psychology, Neurology, Cognitive Neuroscience, Neurology (clinical)
Abstract

Objectif Determiner si les criteres diagnostiques actuels pour TCSP sont appropries chez les patients avec maladie de Parkinson (MP) et evaluer le role respectif de chaque critere, dans une grande cohorte de patients parkinsoniens vus dans un centre de pathologies du mouvement. Methodes Cent treize patients atteints de MP (M = 67 ; âge moyen : 65,8 ± 8,5 ans) ont ete soumis a une entrevue detaillee et un enregistrement video-polysomnographique (vPSG). En l’absence d’un gold standard, le modele des classes latentes a ete utilise pour creer une variable non observee (« latente »). Les variables etaient : – « histoire » d’agissement des reves ; – comportements en sommeil au laboratoire (« video ») ; – sommeil paradoxal sans atonie (SPSA) selon les methodes SINBAR et Montplaisir. Resultats Selon le meilleur modele derive de classes latentes, le TCSP a ete diagnostique chez des patients ayant soit une « histoire » ou une « video », avec un SPSA ; ou bien avec « histoire » et « video » et sans SPSA. Le critere « SPSA » selon SINBAR a montre : sensibilite = 94,2 %, specificite = 88,1 %, VPP = 92,9 % et VNP = 90,2 %, Cohen's K = 0,83. La presence concomitante de « histoire » et « video » a montre 73,9 % sensibilite, 100 % specificite, 100 % PPV, 80 % VPN et K de Cohen 0,68. Conclusion Selon le meilleur modele des classes latentes, les criteres diagnostiques de TCSP dans la MP sont conformes aux criteres actuels. Le « SPSA » (methode SINBAR) a montre la plus grande sensibilite en reduisant le risque de faux positifs, alors que la concomitance de « histoire » et comportements observes a la « video » reduit sensiblement le risque de faux negatif, meme en l’absence de SPSA.

Published
2018

32. Impact des fonctions cognitives sur les rêves dans la maladie de Parkinson

Author

Tiphaine Vidal, Franck Durif, Michela Figorilli, P. Beudin, Marine Roussel, and Maria Livia Fantini

Subjects
Behavioral Neuroscience, Neuropsychology and Physiological Psychology, Neurology, Cognitive Neuroscience, Neurology (clinical)
Abstract

Objectif Une correlation entre reves agressifs et dysfonctionnement cognitif a ete rapportee chez les patients parkinsoniens atteints d’un Trouble du Comportement en Sommeil Paradoxal (TCSP). Neanmoins, le lien entre les reves et les fonctions cognitives est mal connu. Nous avons etudie les caracteristiques des reves chez les patients atteints de Maladie de Parkinson (MP) avec et sans Trouble Cognitif Leger (TCL). Methodes 15 patients parkinsoniens presentant un TCL (MP-TCL + ; 9H, 6F ; âge moyen : 64,7 ± 9,3), defini selon les criteres de Litvan et al., 2001, ont ete apparies en âge et en sexe avec 15 patients sans TCL (MP-TCL-). La proportion de patients presentant un TCSP ne differait pas significativement entre les groupes (10/15 MP-TCL + vs 11/15 MP-TCL- ; p = 0,7). Tous les patients ont ete soumis a une batterie neuropsychologique complete et ont rempli un agenda des reves durant 3 semaines. Les reves ont ete analyses selon la methode quantitative de HallV 117 MP-TCL-). Les patients MP-TCL+ ont presente un pourcentage plus important de reves agressif (49 % vs 24 % ; p = 0,0001) et a caractere sexuel (08 % vs 03 % ; p = 0,047), ainsi que d’elements de menace (42 % vs 21 %, p Conclusion Les reves des patients parkinsoniens avec TCL montrent plus d’elements agressifs et sexuels que les patients sans TCL, independamment de la presence de TCSP. L’atteinte des capacites cognitives et limbiques retrouvee dans la MP pourrait etre impliquee dans l’alteration du contenu onirique.

Published
2017

33. Cardiovascular autonomic control during sleep in patients with acute ischemic stroke

Author

Lino Nobili, Eleonora Tobaldini, Claudio L. Bassetti, Valentina Oppo, V. D. Scigliano, M. Stracuzzi, Nicola Montano, Paola Proserpio, Michela Figorilli, and Ghinzani

Subjects
Cellular and Molecular Neuroscience, medicine.medical_specialty, Endocrine and Autonomic Systems, business.industry, Internal medicine, Cardiology, Medicine, In patient, Neurology (clinical), business, Acute ischemic stroke, Sleep in non-human animals, Autonomic control
Published
2015

34. Association entre troubles du contrôle des impulsions et trouble du comportement en sommeil paradoxal dans la maladie de Parkinson

Author

B. Debilly, Nicolas Vitello, Philippe Derost, Maurizio Zibetti, Michela Figorilli, A. Marques, P. Beudin, M.L. Fantini, F. Durif, and Miguel Ulla

Subjects
Behavioral Neuroscience, Neuropsychology and Physiological Psychology, Neurology, Cognitive Neuroscience, Neurology (clinical)
Abstract

Objectif Nous avons precedemment montre que les patients atteints de la maladie de Parkinson avec un trouble du comportement en sommeil paradoxal (TCSP) probable, ont un risque accru de developper des symptomes de trouble du controle des impulsions (TCI) evalues par questionnaire, par rapport aux patients parkinsonien sans TCSP. L’objectif de cette etude est de comparer la frequence de TCSP chez des patients parkinsoniens avec et sans TCI, les deux troubles evalues selon les criteres diagnostiques standard. Methodes Vingt-cinq patients parkinsoniens non dements consecutifs [16 M ; âge moyenne : 63,9 ± 7,7 ans, Hohen &Yahr (H&Y) : 2,2 ± 0,6] avec un ou plusieurs TCI en cours (MP-TCI) diagnostiques selon les criteres standard, ont ete identifies au sein de deux centres de pathologie du mouvement. Ils ont ete apparies en âge et sexe avec 25 patients parkinsoniens qui n’ont jamais presente de TCI (MP-sans TCI, âge moyenne : 64,4 ± 9,0 ans, H&Y : 2,3 ± 0,8). Tous les sujets ont ete soumis a un enregistrement video-polysomnographique (v-PSG). L’analyse du sommeil a ete effectuee en aveugle par rapport au TCI, et le diagnostic de TCSP a ete etabli selon les criteres du ICSD-3, incluant une mesure quantifiee du sommeil paradoxal sans atonie. Resultats Un TCSP a ete retrouve chez 22/25 (88,0 %) des patients avec MP-TCI vs. 12/25 (48,0 %) patients MP-sans TCI (test exact de Fisher : p = 0,005). Le pourcentage moyen de sommeil paradoxal sans atonie etait de 52,3 ± 26,2 % chez les MP-TCI et de 35,0 ± 28,9 % chez les MP-sans TCI (p = 0,045). L’enregistrement video a montre des episodes tres courts d’activite motrice pendant le SP qui pourraient suggerer un TCSP mineur chez deux des trois patients qui ne presentaient pas les criteres diagnostiques de TCSP, notamment en termes de mesure quantifiee de perte d’atonie. Conclusion Dans cette etude, nous avons retrouve un TCSP confirme par la v-PSG chez environ 90 % des patients parkinsoniens avec un TCI. Ces resultats, associes aux observations precedentes, renforcent l’hypothese selon laquelle le TCSP representerait un facteur predisposant pour le developpement de TCI dans la maladie de Parkinson.

Published
2015

35. Comparaison entre méthodes visuelles et automatiques pour le scoring du tonus musculaire en sommeil paradoxal dans la maladie de Parkinson

Author

P. Beudin, Raffaele Ferri, Ana Marques, Franck Durif, M.L. Fantini, Michela Figorilli, and Monica Puligheddu

Subjects
Behavioral Neuroscience, Neuropsychology and Physiological Psychology, Neurology, Cognitive Neuroscience, Neurology (clinical)
Abstract

Objectif Nous avons voulu comparer trois methodes quantitatives differentes, dont deux visuelles (Montreal et SINBAR) et une automatique (Index d’Atonie, Ferri et al., 2010) pour l’evaluation du sommeil paradoxal sans Atonie (SPSA) chez les patients parkinsoniens avec et sans trouble du comportement en sommeil paradoxal (TCSP). Methodes Trente-deux patients avec une maladie de Parkinson ont ete recrutes (âge moyen : 63,4 annees) et leur videopolysomnographie a ete scoree. Deux parametres ont ete calcules selon la methode de Montreal : % d’epoques de 30 secondes avec activite EMG tonique et % de mini-epoques de 2 s avec activite EMG phasique ; la methode SINBAR a inclus les parametres suivants : % de mini-epoques de 3 s incluant une activite EMG phasique du menton, % de mini-epoques de 3 s incluant toute activite EMG du menton (phasique ou tonique), % des mini-epoques de 3 s incluant toute activite EMG menton et/ou des muscles flechisseurs superficiels des doigts (FSD), % d’epoques de 30 s avec incluant toute activite EMG du menton et/ou des FSD. Enfin, l’Index d’Atonie automatique a ete calcule. Un TCSP a ete diagnostique chez 19 patients selon les criteres ICSD-3. Resultats Les parametres de la methode Montreal ( %d’epoques de 30 secondes incluant une activite EMG tonique) et SINBAR ( % de mini-epoques de 3 s incluant toute activite EMG du menton, % d’epoques de 30 s incluant toute activite EMG du menton et/ou des FSD) ont egalement performe avec 100 % de sensibilite et 76,9 % de specificite (ROC = 0,93). L’Index d’Atonie a montre une sensibilite de 94,7 % et une specificite de 69,2 % (ROC 0,84), tout comme les % des mini-epoques de 3 s incluant toute activite EMG du menton et/ou FSD. Les parametres restants presentaient des sensibilites et des specificites moindres. Conclusion Les trois methodes testees montrent une tres bonne performance pour le scoring du tonus musculaire en sommeil paradoxal chez les patients parkinsoniens. L’inclusion des FSD n’a pas augmente la performance obtenue avec le muscle mentonnier seul. L’approche automatique pourrait representer la methode de premier choix pour la detection du SPSA, qui pourrait etre suivie par une quantification manuelle dans les cas douteux.

Published
2015

36. 91. Neurophysiological evaluation of spinal excitability in patients affected by primitive restless legs syndrome

Author

G. Gioi, Patrizia Congiu, Monica Puligheddu, Giulia Milioli, Michela Figorilli, Maria Livia Fantini, Paolo Tacconi, Francesco Marrosu, and Liborio Parrino

Subjects
education.field_of_study, medicine.medical_specialty, Population, Dopaminergic, medicine.disease, Sensory Systems, Pathophysiology, Nerve conduction velocity, Peripheral, medicine.anatomical_structure, Neurology, Physiology (medical), Peripheral nervous system, Anesthesia, medicine, Physical therapy, Neurology (clinical), Restless legs syndrome, education, Psychology, Ulnar nerve
Abstract

Introduction Restless legs syndrome (RLS) is a frequent pathology, yet underrated and underestimated, affecting inasmuch as 5–10% of the population as a whole. However the pathophysiology has not been completely understood. The dopaminergic system has certainly a primary role, and some studies have highlighted a condition of spinal hyper-excitability. The aim of our study is to explore this hypothesis throughout the electrophysiological evaluation of the spinal and peripheral nervous system in primitives RLS patients. Materials and methods Among the patients affected by primitive RLS admitted to our Sleep Centerlab, we selected 15 women, and compared them with 17 control subjects of the same sex and age. All subjects had undergone ENG evaluation to exclude any secondary causes of lower limb paresthesia and to evaluate spinal excitability. According to a previous study, we considered two parameters which can be easily extracted from the routine tests normally carried out in the neurophysiopathology labs, the duration of F waves (FWD) of the Internal Popliteal (IPN) and ulnar nerves, and the relationship between FWD and the duration of the corresponding CMAP (CMAPD). Results None of the subjects (RLS and controls) included in our study presented alterations in the nerve conduction velocity. Compared to the control group, significantly higher values were found in the RLS patients for the FWD/CMAPD ratio average (p 0.001 test Mann–Whitney) and for the FWD average for both nerves ulnar (p 0.05 unpaired t-test) and IPN (p 0.01 unpaired t-test). Conclusion The results of our study confirm the absence of peripheral involvement in primitive RLS, while they indicate a spinal motorneuronal hyper-excitability, which seems widespread, as both IPN and ulnar nerve stimulation indicators are altered. Such condition could be due mainly to an alteration of the modulation in the interneuronal system. Presently, RLS diagnosis is based exclusively on clinical criteria. The FWD/CMAPD ratio can help to shed light on the pathogenesis of RLS, and can be used as an instrumental diagnostic indicator, easily obtainable and useful especially in cases of lower leg discomfort at night of unclear interpretation. Acknowledgements The authors would like to thank Prof. F. Marrosu and Dr. M. Fraschini, University of Cagliari, Italy, and Prof. L. Parrino, University of Parma, Italy, for their important contribution.

Published
2015

37. Occurrence and Daergic Therapy Correlates of REM Sleep Behaviour Disorder in a Large Population of Patients with Parkinson's Disease (P05.009)

Author

Gianni Orofino, G. Gioi, Francesco Marrosu, Paolo Solla, Monica Puligheddu, Antonino Cannas, Patrizia Congiu, Michela Figorilli, Ilaria Laccu, and Matteo Fraschini

Subjects
medicine.medical_specialty, Parkinson's disease, business.industry, Large population, medicine, Sleep behavior, Neurology (clinical), Psychiatry, medicine.disease, business
Published
2012

38. GBA VARIANTS IN REM SLEEP BEHAVIOR DISORDER RISK AND CONVERSION: A MULTICENTER STUDY

Author

Ziv Gan-Or, Monica Maria Francesca Puligheddu, Marco Toffoli, Mariarosaria Valente, G. Plazzi, Friederike Sixel-Döring, Uladzislau Rudakou, F. Dijkstra, Jean Gagnon, Karel Sonka, W. H. Oertel, V. Cochen De Cock, Guy A. Rouleau, A. Heidbreder, B. F. Boeve, B. Abril, Farnaz Asayesh, Alberto J. Espay, Luigi Ferini-Strambi, Birgit Högl, Claudia Trenkwalder, Annette Janzen, Brit Mollenhauer, Elena Antelmi, Yves Dauvilliers, Mineke Viaene, Michele T.M. Hu, Lynne Krohn, Christelle Charley Monaca, D. Kemlink, I. Arnulf, Etienne Leveille, A. Desautels, Jacques Montplaisir, Gian Luigi Gigli, Jennifer A. Ruskey, Ronald B. Postuma, Michela Figorilli, and Ambra Stefani

Subjects
Oncology, medicine.medical_specialty, Neurology, Multicenter study, business.industry, Internal medicine, medicine, Neurology (clinical), Geriatrics and Gerontology, medicine.disease, business, REM sleep behavior disorder

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