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1. Motor and Sensory Features of Cervical Dystonia Subtypes: Data From the Italian Dystonia Registry

Author

Francesca Di Biasio, Roberta Marchese, Giovanni Abbruzzese, Ottavia Baldi, Marcello Esposito, Francesco Silvestre, Girolamo Tescione, Alfredo Berardelli, Giovanni Fabbrini, Gina Ferrazzano, Roberta Pellicciari, Roberto Eleopra, Grazia Devigili, Francesco Bono, Domenico Santangelo, Laura Bertolasi, Maria Concetta Altavista, Vincenzo Moschella, Paolo Barone, Roberto Erro, Alberto Albanese, Cesa Scaglione, Rocco Liguori, Maria Sofia Cotelli, Giovanni Cossu, Roberto Ceravolo, Mario Coletti Moja, Maurizio Zibetti, Antonio Pisani, Martina Petracca, Michele Tinazzi, Luca Maderna, Paolo Girlanda, Luca Magistrelli, Salvatore Misceo, Marcello Romano, Brigida Minafra, Nicola Modugno, Marco Aguggia, Daniela Cassano, Giovanni Defazio, Laura Avanzino, Di Biasio F., Marchese R., Abbruzzese G., Baldi O., Esposito M., Silvestre F., Tescione G., Berardelli A., Fabbrini G., Ferrazzano G., Pellicciari R., Eleopra R., Devigili G., Bono F., Santangelo D., Bertolasi L., Altavista M.C., Moschella V., Barone P., Erro R., Albanese A., Scaglione C., Liguori R., Cotelli M.S., Cossu G., Ceravolo R., Coletti Moja M., Zibetti M., Pisani A., Petracca M., Tinazzi M., Maderna L., Girlanda P., Magistrelli L., Misceo S., Romano M., Minafra B., Modugno N., Aguggia M., Cassano D., Defazio G., and Avanzino L.

Subjects
0301 basic medicine, medicine.medical_specialty, SNi, cervical dystonia, Head tremor, spread, Sensory system, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Post-hoc analysis, medicine, pain, Cervical dystonia, Sensory trick, lcsh:Neurology. Diseases of the nervous system, Dystonia, Neck pain, sensory trick, business.industry, medicine.disease, tremor, nervous system diseases, 030104 developmental biology, Neurology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Introduction: Cervical dystonia (CD) is one of the most common forms of adult-onset isolated dystonia. Recently, CD has been classified according to the site of onset and spread, in different clinical subgroups, that may represent different clinical entities or pathophysiologic subtypes. In order to support this hypothesis, in this study we have evaluated whether different subgroups of CD, that clinically differ for site of onset and spread, also imply different sensorimotor features. Methods: Clinical and demographic data from 842 patients with CD from the Italian Dystonia Registry were examined. Motor features (head tremor and tremor elsewhere) and sensory features (sensory trick and neck pain) were investigated. We analyzed possible associations between motor and sensory features in CD subgroups [focal neck onset, no spread (FNO-NS); focal neck onset, segmental spread (FNO-SS); focal onset elsewhere with segmental spread to neck (FOE-SS); segmental neck involvement without spread (SNI)]. Results: In FNO-NS, FOE-SS, and SNI subgroups, head tremor was associated with the presence of tremor elsewhere. Sensory trick was associated with pain in patients with FNO-NS and with head tremor in patients with FNO-SS. Conclusion: The frequent association between head tremor and tremor elsewhere may suggest a common pathophysiological mechanism. Two mechanisms may be hypothesized for sensory trick: a gating mechanism attempting to reduce pain and a sensorimotor mechanism attempting to control tremor.

Published
2020

2. Does acute peripheral trauma contribute to idiopathic adult-onset dystonia?

Author

Francesca Di Biasio, Roberto Ceravolo, Giovanni Fabbrini, Valentina Durastanti, Fiore Manganelli, Marcello Esposito, Maria Concetta Altavista, Marcello Mario Mascia, Nicola Tambasco, Alberto Albanese, Luca Maderna, Roberta Pellicciari, Cesa Scaglione, Tommaso Ercoli, Anna Castagna, Stefania Lalli, Marcello Romano, Paolo Girlanda, Giulio Demonte, Michele Tinazzi, Alfredo Berardelli, Francesca Morgante, Laura Bertolasi, Maria Cotelli, Antonio Pisani, Marinella Turla, Valentina Oppo, Marco Aguggia, Paolo Barone, Giovanni Cossu, Nicola Modugno, Francesco Silvestre, Maurizio Zibetti, Salvatore Misceo, Roberto Eleopra, Grazia Devigili, Giulia Di Lazzaro, Roberta Marchese, Giovanna Squintani, Gina Ferrazzano, Daniela Cassano, Luca Magistrelli, Domenico Santangelo, P. Barbero, Sonia Mazzucchi, Giovanni Defazio, Roberto Erro, Francesco Bono, Brigida Minafra, Martina Petracca, Anna Rita Bentivoglio, Mario Coletti Moja, Laura Avanzino, Defazio, G., Fabbrini, G., Erro, R., Albanese, A., Barone, P., Zibetti, M., Esposito, M., Pellicciari, R., Avanzino, L., Bono, F., Eleopra, R., Bertolasi, L., Altavista, M. C., Cotelli, M. S., Ceravolo, R., Scaglione, C., Bentivoglio, A. R., Cossu, G., Coletti Moja, M., Girlanda, P., Misceo, S., Pisani, A., Mascia, M. M., Ercoli, T., Tinazzi, M., Maderna, L., Minafra, B., Magistrelli, L., Romano, M., Aguggia, M., Tambasco, N., Castagna, A., Cassano, D., Berardelli, A., Ferrazzano, G., Lalli, S., Silvestre, F., Manganelli, F., Di Biasio, F., Marchese, R., Demonte, G., Santangelo, D., Devigili, G., Durastanti, V., Turla, M., Mazzucchi, S., Petracca, M., Oppo, V., Barbero, P., Morgante, F., Di Lazzaro, G., Squintani, G., and Modugno, N.

Subjects
0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Injury, Trauma, 03 medical and health sciences, 0302 clinical medicine, Dystonia, Acute Disease, Aged, Dystonic Disorders, Female, Humans, Italy, Middle Aged, Peripheral Nerve Injuries, Retrospective Studies, Risk Factors, Registries, otorhinolaryngologic diseases, Medicine, Risk factor, Medical attention, Secondary Dystonia, business.industry, medicine.disease, nervous system diseases, Peripheral, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Neurology (clinical), Geriatrics and Gerontology, business, Acute trauma, 030217 neurology & neurosurgery
Abstract

Background Acute peripheral trauma is a controversial risk factor for idiopathic dystonia. Materials and methods We retrospectively analyzed data from the Italian Dystonia Registry regarding the occurrence of acute peripheral trauma severe enough to require medical attention in 1382 patients with adult-onset idiopathic dystonia and 200 patients with acquired adult-onset dystonia. Results Patients with idiopathic and acquired dystonia showed a similar burden of peripheral trauma in terms of the number of patients who experienced trauma (115/1382 vs. 12/200, p = 0.3) and the overall number of injuries (145 for the 1382 idiopathic patients and 14 for the 200 patients with secondary dystonia, p = 0.2). Most traumas occurred before the onset of idiopathic or secondary dystonia but only a minority of such injuries (14 in the idiopathic group, 2 in the acquired group, p = 0.6) affected the same body part as that affected by dystonia. In the idiopathic group, the elapsed time between trauma and dystonia onset was 8.1 ± 9.2 years; only six of the 145 traumas (4.1%) experienced by 5/1382 idiopathic patients (0.36%) occurred one year or less before dystonia onset; in the acquired dystonia group, the two patients experienced prior trauma to the dystonic body part 5 and 6 years before dystonia development. Discussion and conclusion Our data suggest that the contribution of peripheral acute trauma to idiopathic dystonia is negligible, if anything, and likely involves only a small subset of patients.

Published
2020

3. Validation of the Italian version of the PSP Quality of Life questionnaire

Author

Francesca Di Biasio, Alessandra Nicoletti, Alessandro Padovani, Anna Vera Milner, Mario Zappia, Nicola Modugno, Brigida Minafra, Luca Magistrelli, Marina Picillo, Sebastiano Galantucci, Enrica Olivola, Paolo Barone, Fabio Bruschi, Roberta Marchese, Rosa De Micco, Maurizio Zibetti, Sofia Cuoco, Nicola Biagio Mercuri, Roberta Zangaglia, Maria Cristina Rizzetti, Alessio Di Fonzo, Immacolata Carotenuto, Francesco Paolo Bonifacio, Maria Chiara Malaguti, Giulia Lazzeri, Daniela Frosini, Andrea Pilotto, Marianna Amboni, Giulia Franco, Eleonora Del Prete, Alessandro Tessitore, Tommaso Schirinzi, Margherita Fabbri, Alessandro Stefani, Francesca Elifani, Barbara Borroni, Anna De Rosa, Maria Antonietta Volontè, Roberto Ceravolo, Marika Falla, Cristina Rascunà, Roberto Erro, Gabriella Santangelo, Picillo, Marina, Cuoco, Sofia, Amboni, Marianna, Bonifacio, Francesco Paolo, Bruschi, Fabio, Carotenuto, Immacolata, De Micco, Rosa, De Rosa, Anna, Del Prete, Eleonora, Di Biasio, Francesca, Elifani, Francesca, Erro, Roberto, Fabbri, Margherita, Falla, Marika, Franco, Giulia, Frosini, Daniela, Galantucci, Sebastiano, Lazzeri, Giulia, Magistrelli, Luca, Malaguti, Maria Chiara, Milner, Anna Vera, Minafra, Brigida, Olivola, Enrica, Pilotto, Andrea, Rascunà, Cristina, Rizzetti, Maria Cristina, Schirinzi, Tommaso, Borroni, Barbara, Ceravolo, Roberto, Di Fonzo, Alessio, Marchese, Roberta, Mercuri, Nicola B, Modugno, Nicola, Nicoletti, Alessandra, Padovani, Alessandro, Santangelo, Gabriella, Stefani, Alessandro, Tessitore, Alessandro, Volontè, Maria Antonietta, Zangaglia, Roberta, Zappia, Mario, Zibetti, Maurizio, Barone, Paolo, Picillo, M., Cuoco, S., Amboni, M., Bonifacio, F. P., Bruschi, F., Carotenuto, I., De Micco, R., De Rosa, A., Del Prete, E., Di Biasio, F., Elifani, F., Erro, R., Fabbri, M., Falla, M., Franco, G., Frosini, D., Galantucci, S., Lazzeri, G., Magistrelli, L., Malaguti, M. C., Milner, A. V., Minafra, B., Olivola, E., Pilotto, A., Rascuna, C., Rizzetti, M. C., Schirinzi, T., Borroni, B., Ceravolo, R., Di Fonzo, A., Marchese, R., Mercuri, N. B., Modugno, N., Nicoletti, A., Padovani, A., Santangelo, G., Stefani, A., Tessitore, A., Volonte, M. A., Zangaglia, R., Zappia, M., Zibetti, M., and Barone, P.

Subjects
Male, medicine.medical_specialty, Neurology, Movement disorders, Psychometrics, Psychological intervention, Dermatology, Disease, Parkinsonism, Settore MED/26, 03 medical and health sciences, 0302 clinical medicine, Clinical trials, Progressive supranuclear palsy, Quality of life, Cronbach's alpha, Progressive, 80 and over, Medicine, Supranuclear Palsy, Humans, 030212 general & internal medicine, Aged, Aged, 80 and over, business.industry, Reproducibility of Results, General Medicine, medicine.disease, Female, Italy, Self Report, Supranuclear Palsy, Progressive, Quality of Life, humanities, eye diseases, Clinical trial, Psychiatry and Mental health, Convergent validity, Physical therapy, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Background: Progressive supranuclear palsy (PSP) is a rare rapidly progressive, neurodegenerative disease characterized by falls and ocular movement disturbances. The use of health-related quality of life (HR-QoL) measures allows assessing changes in health status induced by therapeutic interventions or disease progress in neurodegenerative diseases. The PSP-QoL is a 45-item, self-administered questionnaire designed to evaluate HR-QoL in PSP. Methods and Results: Here, the PSP-QoL was translated into Italian and validated in 190 PSP (96 women and 94 men; mean age ± standard deviation, 72 ± 6.5; mean disease duration, 4.2 ± 2.3) patients diagnosed according to the Movement Disorder Society criteria and recruited in 16 third level movement disorders centers participating in the Neurecanet project. The mean PSP-QoL total score was 77.8 ± 37 (physical subscore, 46.5 ± 18.7; mental subscore, 33.6 ± 19.2). The internal consistency was high (Cronbach’s alpha = 0.954); corrected item-total correlation was > 0.40 for the majority of items. The significant and moderate correlation of the PSP-QoL with other HR-QoL measures as well as with motor and disability assessments indicated adequate convergent validity of the scale. Gender and geographic location presented a significant impact on the PSP-QoL in our sample with women and patients from the South of Italy scoring higher than their counterparts. Conclusion: In conclusion, the Italian version of the PSP-QoL is an easy, reliable and valid tool for assessment of HR-QoL in PSP.

Published
2019

4. Validation of the Italian version of carers’ quality-of-life questionnaire for parkinsonism (PQoL Carer) in progressive supranuclear palsy

Author

Sofia Cuoco, Francesca Di Biasio, Alessio Di Fonzo, Alessandra Nicoletti, Antonino Bruno, Brigida Minafra, Roberta Zangaglia, Alessandro Stefani, Marika Falla, Cristina Rascunà, Roberto Erro, Leonardo Lopiano, Alessandro Padovani, Alessandro Tessitore, Anna Vera Milner, Fabio Bruschi, Maria Cristina Rizzetti, Mario Zappia, Daniela Frosini, Arianna Cappiello, Roberto Ceravolo, Sebastiano Galantucci, Rosa De Micco, Gabriella Santangelo, Enrica Olivola, Roberta Marchese, Tommaso Schirinzi, Andrea Pilotto, Giulia Franco, Nicola Modugno, Margherita Fabbri, Maria Chiara Malaguti, Giulia Lazzeri, Paolo Barone, Anna De Rosa, Maria Antonietta Volontè, Francesco Paolo Bonifacio, Marianna Amboni, Luca Magistrelli, Nicola Biagio Mercuri, Marina Picillo, Francesca Elifani, Barbara Borroni, Picillo, M., Cuoco, S., Amboni, M., Bonifacio, F. P., Bruno, A., Bruschi, F., Cappiello, A., De Micco, R., De Rosa, A., Di Biasio, F., Elifani, F., Erro, R., Fabbri, M., Falla, M., Franco, G., Frosini, D., Galantucci, S., Lazzeri, G., Magistrelli, L., Malaguti, M. C., Milner, A. V., Minafra, B., Olivola, E., Pilotto, A., Rascuna, C., Rizzetti, M. C., Schirinzi, T., Borroni, B., Ceravolo, R., Di Fonzo, A., Lopiano, L., Marchese, R., Mercuri, N. B., Modugno, N., Nicoletti, A., Padovani, A., Santangelo, G., Stefani, A., Tessitore, A., Volonte, M. A., Zangaglia, R., Zappia, M., and Barone, P.

Subjects
Quality of life, Adult, Male, medicine.medical_specialty, Neurology, Movement disorders, Psychometrics, Dermatology, Progressive supranuclear palsy, 03 medical and health sciences, 0302 clinical medicine, Clinical trials, Cronbach's alpha, Parkinsonian Disorders, Progressive, Surveys and Questionnaires, medicine, Humans, Supranuclear Palsy, 030212 general & internal medicine, Aged, Caregiver, Carer, business.industry, Parkinsonism, Discriminant validity, General Medicine, Middle Aged, Translating, medicine.disease, eye diseases, humanities, Clinical trial, Psychiatry and Mental health, Convergent validity, Caregivers, Italy, Physical therapy, Female, Neurology (clinical), Supranuclear Palsy, Progressive, medicine.symptom, business, 030217 neurology & neurosurgery, Quality of Life
Abstract

Progressive supranuclear palsy (PSP) is a rare, rapidly progressive, neurodegenerative disease characterized by falls and ocular movement disturbances. Caring for a partner or relative who suffers from PSP entails a strenuous and demanding task, usually lasting for years that affects carers’ everyday life routines and emotional and social well-being. The 26-item Parkinsonism Carers QoL (PQoL Carer) is a self-administered, concise instrument evaluating the quality of life of caregivers of patients with atypical parkinsonism (both PSP and multiple system atrophy). Here, the PQoL Carer was translated into Italian and validated in 162 carers of PSP patients (54.3% women; mean age (standard deviation), 62.4 (15.4)) diagnosed according to the Movement Disorder Society criteria and recruited in 16 third-level movement disorders centers participating in the Neurecanet project. The mean PQoL total score was 40.66 ± 19.46. The internal consistency was excellent (Cronbach’s alpha = 0.941); corrected item-total correlation was > 0.40 for all the items. A correlation with other health-related quality of life measures as well as with behavioral assessments was shown suggesting adequate convergent validity of the scale. PQoL also correlated with patients’ severity of disease. The discriminant validity of the scale was evidenced by its capacity to differentiate between carers with varying levels of self-reported health (p < 0.001). In conclusion, the Italian version of the PQoL Carer is an easy, consistent, and valid tool for the assessment of the quality of life in carers of PSP patients.

Published
2019

5. The Italian Dystonia Registry: rationale, design and preliminary findings

Author

Giovanni Defazio, Roberto Ceravolo, Maria Concetta Altavista, Giovanni Fabbrini, Alberto Albanese, Marcello Esposito, Marco Aguggia, Ruggero Bacchin, Maurizio Zibetti, L. Polidori, Maria Rosaria Mazza, Nicola Tambasco, Giovanni Cossu, Antonio Pisani, E Unti, Roberta Arca, Marcello Romano, Paolo Girlanda, Martina Petracca, Maria Cotelli, Michele Tinazzi, Giovanni Abbruzzese, Anna Rita Bentivoglio, Francesca Morgante, Gina Ferrazzano, Roberta Pellicciari, Roberto Eleopra, Laura Bertolasi, Cesa Scaglione, Luca Magistrelli, Angelo Fabio Gigante, Rocco Liguori, Nicola Modugno, Christian Lettieri, Salvatore Misceo, M. Coletti Moja, Alfredo Berardelli, Francesco Bono, Giovanna Squintani, Laura Avanzino, Silvio Peluso, Defazio, Giovanni, Esposito, M., Abbruzzese, G., Scaglione, C.L., Fabbrini, G., Ferrazzano, G., Peluso, S., Pellicciari, R., Gigante, A.F., Cossu, G., Arca, R., Avanzino, L., Bono, F., Mazza, M.R., Bertolasi, L., Bacchin, R., Eleopra, R., Lettieri, C., Morgante, F., Altavista, M.C., Polidori, L., Liguori, R., Misceo, S., Squintani, G., Tinazzi, M., Ceravolo, R., Unti, E., Magistrelli, L., Coletti Moja, M., Modugno, N., Petracca, M., Tambasco, N., Cotelli, M.S., Aguggia, M., Pisani, A., Romano, M., Zibetti, M., Bentivoglio, A.R., Albanese, A., Girlanda, P., Berardelli, A., Defazio, G., Scaglione, C. L., Gigante, A. F., Mazza, M. R., Altavista, M. C., Cotelli, M. S., and Bentivoglio, A. R.

Subjects
0301 basic medicine, Male, Pediatrics, Movement disorders, Epidemiology, Severity of Illness Index, 0302 clinical medicine, Retrospective Studie, 80 and over, Cervical dystonia, Registries, Age of Onset, Dystonia, Aged, 80 and over, education.field_of_study, General Medicine, Middle Aged, Natural history, Risk factors, 2708, Neurology (clinical), Psychiatry and Mental Health, Italy, Cohort, Disease Progression, Female, Settore MED/26 - Neurologia, medicine.symptom, Human, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Blepharospasm, Population, Aged, Humans, Retrospective Studies, Risk Factors, Young Adult, Dermatology, 03 medical and health sciences, medicine, otorhinolaryngologic diseases, education, business.industry, medicine.disease, nervous system diseases, 030104 developmental biology, Physical therapy, Etiology, Risk factor, business, 030217 neurology & neurosurgery
Abstract

The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy. The cohort was characterized by a lower education level than the Italian population, and most patients were employed as artisans, builders, farmers, or unskilled workers. The clinical features of our sample confirmed the peculiar characteristics of adult-onset dystonia, i.e. gender preference, peak age at onset in the sixth decade, predominance of cervical dystonia and blepharospasm over the other focal dystonias, and a tendency to spread to adjacent body parts, The sample also confirmed the association between eye symptoms and blepharospasm, whereas no clear association emerged between extracranial injury and dystonia in a body site. Adult-onset dystonia patients and the Italian population shared similar burden of arterial hypertension, type 2 diabetes, coronary heart disease, dyslipidemia, and hypothyroidism, while hyperthyroidism was more frequent in the dystonia population. Geographic stratification of the study population yielded no major difference in the most clinical and phenomenological features of dystonia. Analysis of baseline information from recruited patients indicates that the Italian Dystonia Registry may be a useful tool to capture the real world clinical practice of physicians that visit dystonia patients.

Published
2017

6. SPG5 siblings with different phenotypes showing reduction of 27-hydroxycholesterol after simvastatin-ezetimibe treatment

Author

Maria Teresa Dotti, Lucia Monti, Andrea Mignarri, Miryam Carecchio, Luca Magistrelli, Daniela Di Bella, Marina Del Puppo, Mignarri, A, Carecchio, M, Del Puppo, M, Magistrelli, L, Di Bella, D, Monti, L, and Dotti, M

Subjects
Adult, 0301 basic medicine, medicine.medical_specialty, Simvastatin, CYP7B1, 27-hydroxycholesterol, Brain MRI, Ezetimibe, Oxysterols, SPG5, Cytochrome P450 Family 7, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Oxysterol, Drug Therapy, Internal medicine, Brain mri, medicine, Humans, Spastic Paraplegia, MED/26 - NEUROLOGIA, business.industry, Anticholesteremic Agents, Siblings, Brain, Middle Aged, Phenotype, Hydroxycholesterols, Hereditary, Treatment Outcome, 030104 developmental biology, Endocrinology, chemistry, Neurology, Combination, Steroid Hydroxylases, 27-Hydroxycholesterol, Drug Therapy, Combination, Female, Spastic Paraplegia, Hereditary, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
Published
2017

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