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1. A model of membrane deformations driven by a surface pH gradient

Author

Mendes, Toni V., Ranft, Jonas, and Berthoumieux, Hélène

Subjects
Condensed Matter - Soft Condensed Matter
Abstract

Many cellular organelles are membrane-bound structures with complex membrane composition and shape. Their shapes have been observed to depend on the metabolic state of the organelle, and the mechanisms that couple biochemical pathways and membrane shape are still actively investigated. Here, we study a model coupling inhomogeneities in the lipid composition and membrane geometry via a generalized Helfrich free energy. We derive the resulting stress tensor, the Green's function for a tubular membrane and compute the phase diagram of the induced deformations. We then apply this model to study the deformation of mitochondria cristae described as membrane tubes supporting a pH gradient at its surface. This gradient in turn controls the lipid composition of the membrane via the protonation/deprotonation of cardiolipins, which are acid-based lipids known to be crucial for mitochondria shape and functioning. Our model predicts the appearance of tube deformations resembling the observed shape changes of cristea when submitted to a proton gradient., Comment: 10 pages, 3 figures

Published
2022
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3. PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

Author

Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ, Bakker EB, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J, Netherlands Brain Bank, International Parkinsonism Genetics Network, Ferreira J, Correia Guedes L, Chien HF, Barbosa ER, Merola A, Zibetti M, Lopiano L, Tassorelli C, Pacchetti C, Nappi G, Riboldazzi G, Bono G, Padovani A, Borroni B, Fincati E, Bertolasi L, Tinazzi M, Bonizzato A, Dalla Libera A, Guidi M, Marini P, Massaro F, Marconi R, Onofrj M, Thomas A, Vanacore N, Meco G, Fabbrini G, Fabrizio E, Manfredi M, Berardelli A, Stocchi F, Vacca L, De Mari M, Dell'Aquila C, Iliceto G, Lamberti P, Toni V, Trianni G, Saddi V, Cossu G, Melis M., CORTELLI, PIETRO, CAPELLARI, SABINA, Pathology, Human genetics, Neurology, NCA - neurodegeneration, Clinical Genetics, Internal Medicine, Molecular Genetics, Obstetrics & Gynecology, Molecular and Cellular Neurobiology, Neuroscience Campus Amsterdam - Neurodegeneration, AIMMS, Netherlands Institute for Neuroscience (NIN), Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ, Bakker EB, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J, Netherlands Brain Bank, International Parkinsonism Genetics Network, Ferreira J, Correia Guedes L, Chien HF, Barbosa ER, Merola A, Zibetti M, Lopiano L, Tassorelli C, Pacchetti C, Nappi G, Riboldazzi G, Bono G, Padovani A, Borroni B, Fincati E, Bertolasi L, Tinazzi M, Bonizzato A, Dalla Libera A, Cortelli P, Capellari S, Guidi M, Marini P, Massaro F, Marconi R, Onofrj M, Thomas A, Vanacore N, Meco G, Fabbrini G, Fabrizio E, Manfredi M, Berardelli A, Stocchi F, Vacca L, De Mari M, Dell'Aquila C, Iliceto G, Lamberti P, Toni V, Trianni G, Saddi V, Cossu G, and Melis M

Subjects
Models, Molecular, Male, Electron Microscope Tomography, Pathology, neurofilament, metabolism [Cyclic AMP-Dependent Protein Kinase Catalytic Subunits], pathology [Frontal Lobe], 0302 clinical medicine, chemistry [Cyclic AMP-Dependent Protein Kinase Catalytic Subunits], Models, Missense mutation, metabolism [alpha-Synuclein], Intermediate filament, 0303 health sciences, Parkinsonism, pathology [Neurodegenerative Diseases], Neurodegenerative Diseases, Single Nucleotide, SDG 10 - Reduced Inequalities, Middle Aged, Frontal Lobe, 3. Good health, DNA-Binding Proteins, genetics [Cyclic AMP-Dependent Protein Kinase RIbeta Subunit], metabolism [Frontal Lobe], PRKAR1B, neurodegenerative disorders, genetics [Polymorphism, Single Nucleotide], alpha-Synuclein, Female, metabolism [DNA-Binding Proteins], Frontotemporal dementia, medicine.medical_specialty, Neurofilament, Protein subunit, metabolism [Amyloid beta-Peptides], Nerve Tissue Proteins, tau Proteins, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, medicine, Humans, ddc:610, Polymorphism, Protein kinase A, Hereditary Neurodegenerative Disorder, Genetic Association Studies, Aged, 030304 developmental biology, Family Health, intermediate filament, Cyclic AMP-Dependent Protein Kinase Catalytic Subunits, metabolism [Nerve Tissue Proteins], Amyloid beta-Peptides, protein kinase A Calpha, protein kinase A, Molecular, medicine.disease, Molecular biology, metabolism [tau Proteins], ultrastructure [Frontal Lobe], PRKAR1B protein, human, genetics [Neurodegenerative Diseases], Parkinson’s disease, Cyclic AMP-Dependent Protein Kinase RIbeta Subunit, Neurology (clinical), 030217 neurology & neurosurgery
Abstract

Inclusions of intermediate filaments are found in a number of neurodegenerative diseases. Using whole exome sequencing, linkage analysis and proteomics, Wong and Chiu et al. identify a new familial neurodegenerative disease with intermediate filament inclusions, linked to a mutation in the gene encoding the PKA type I-beta regulatory subunit, PRKAR1B.Pathological accumulation of intermediate filaments can be observed in neurodegenerative disorders, such as Alzheimer's disease, frontotemporal dementia and Parkinson's disease, and is also characteristic of neuronal intermediate filament inclusion disease. Intermediate filaments type IV include three neurofilament proteins (light, medium and heavy molecular weight neurofilament subunits) and alpha-internexin. The phosphorylation of intermediate filament proteins contributes to axonal growth, and is regulated by protein kinase A. Here we describe a family with a novel late-onset neurodegenerative disorder presenting with dementia and/or parkinsonism in 12 affected individuals. The disorder is characterized by a unique neuropathological phenotype displaying abundant neuronal inclusions by haematoxylin and eosin staining throughout the brain with immunoreactivity for intermediate filaments. Combining linkage analysis, exome sequencing and proteomics analysis, we identified a heterozygous c.149T > G (p.Leu50Arg) missense mutation in the gene encoding the protein kinase A type I-beta regulatory subunit (PRKAR1B). The pathogenicity of the mutation is supported by segregation in the family, absence in variant databases, and the specific accumulation of PRKAR1B in the inclusions in our cases associated with a specific biochemical pattern of PRKAR1B. Screening of PRKAR1B in 138 patients with Parkinson's disease and 56 patients with frontotemporal dementia did not identify additional novel pathogenic mutations. Our findings link a pathogenic PRKAR1B mutation to a novel hereditary neurodegenerative disorder and suggest an altered protein kinase A function through a reduced binding of the regulatory subunit to the A-kinase anchoring protein and the catalytic subunit of protein kinase A, which might result in subcellular dislocalization of the catalytic subunit and hyperphosphorylation of intermediate filaments.

Published
2014

4. Getting the most from your subscription sampling partnership: with the subscription sampling box trend showing little sign of slowing down, it's time to figure out the best way for your beauty brand to take advantage of this new marketing resource

Author

Martin, Toni V.

Subjects
Marketing, Business, Pharmaceuticals and cosmetics industries
Abstract

Subscription boxes are undeniably hot, with established boxes raising millions in funding and new boxes for everything from tampons (LeParcel) to razor blades (Dollar Shave Club) launching weekly. The beauty [...]

Published
2013

5. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes

Author

Bonifati V., Rohe C. F., Breedveld G. J., Fabrizio E., De Mari M., Tassorelli C., Tavella A., Marconi R., Nicholl D. J., Chien H. F., Fincati E., Abbruzzese G., Marini P., De Gaetano A., Horstink M. W., Maat Kievit J. A., Sampaio C., Antonini A., Stocchi F., Toni V., Guidi M., Dalla Libera A., Tinazzi M., De Pandis F., Fabbrini G., Goldwurm S., de Klein A., Barbosa E., Lopiano L., Martignoni E., Lamberti P., Vanacore N., Meco G., Oostra B.A., Italian Parkinson Genetics Network, MONTAGNA, PASQUALE, Bonifati V., Rohe C.F., Breedveld G.J., Fabrizio E., De Mari M., Tassorelli C., Tavella A., Marconi R., Nicholl D.J., Chien H.F., Fincati E., Abbruzzese G., Marini P., De Gaetano A., Horstink M.W., Maat-Kievit J.A., Sampaio C., Antonini A., Stocchi F., Montagna P., Toni V., Guidi M., Dalla Libera A., Tinazzi M., De Pandis F., Fabbrini G., Goldwurm S., de Klein A., Barbosa E., Lopiano L., Martignoni E., Lamberti P., Vanacore N., Meco G., Oostra BA., Italian Parkinson Genetics Network., and Clinical Genetics

Subjects
Adult, Male, DNA, Complementary, Adolescent, Genotype, Parkinson's disease, assessment, DNA Mutational Analysis, Mutation, Missense, Biology, Early-onset parkinsonism, medicine.disease_cause, Genotype-phenotype distinction, Cognitive neurosciences [UMCN 3.2], Gene Frequency, PINK1 gene mutations, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele, Age of Onset, Child, Allele frequency, Genetics, Mutation, Parkinson'disease, Genome, Polymorphism, Genetic, Sequence Homology, Amino Acid, Parkinsonism, Parkinson Disease, Middle Aged, medicine.disease, Phenotype, Italy, Female, Neurology (clinical), Age of onset, Protein Kinases
Abstract

Item does not contain fulltext OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (

Published
2005

7. GIGYF2 mutations are not a frequent cause of familial Parkinson's disease

Author

Di Fonzo A., Fabrizio E., Thomas A., Fincati E., Marconi R., Tinazzi M., Breedveld G. J., Simons E. J., Chien H. F., Ferreira J. J., Horstink M. W., Abbruzzese G., Borroni B., Cossu G., Dalla Libera A., Fabbrini G., Guidi M., De Mari M., Lopiano L., Martignoni E., Marini P., Onofrj M., Padovani A., Stocchi F., Toni V., Sampaio C., Barbosa E. R., Meco G., Italian Parkinson Genetics Network, Oostra B. A, Bonifati V., MONTAGNA, PASQUALE, Erasmus MC other, Clinical Genetics, Di Fonzo A., Fabrizio E., Thomas A., Fincati E., Marconi R., Tinazzi M., Breedveld G.J., Simons E.J., Chien H.F., Ferreira J.J., Horstink M.W., Abbruzzese G., Borroni B., Cossu G., Dalla Libera A., Fabbrini G., Guidi M., De Mari M., Lopiano L., Martignoni E., Marini P., Onofrj M., Padovani A., Stocchi F., Toni V., Sampaio C., Barbosa E.R., Meco G., Italian Parkinson Genetics Network, Montagna P., Oostra B.A, and Bonifati V.

Subjects
Proband, Adult, Parkinson's disease, PARK11, Locus (genetics), Disease, Biology, Genetics, GIGYF2, Mutation, medicine, Coding region, Humans, parkinson disease, Gene, Aged, Parkinson Disease, Middle Aged, medicine.disease, Pedigree, Neurology, Carrier protein, Neurology (clinical), Geriatrics and Gerontology, Carrier Proteins, genetics, gigyf2, mutation, park11, parkinson's disease
Abstract

Mutations in the Grb10-interacting GYF protein 2 (GIGYF2) gene, within the PARK11 locus, have been nominated as a cause of Parkinson's disease in Italian and French populations. By sequencing the whole GIGYF2 coding region in forty-six probands (thirty-seven Italians) with familial Parkinson's disease compatible with an autosomal dominant inheritance, we identified no mutations. Our data add to a growing body of evidence suggesting that GIGYF2 mutations are not a frequent cause of PD. (C) 2009 Elsevier Ltd. All rights reserved.

Published
2009

9. Frontal assessment battery scores and non-motor symptoms in parkinsonian disorders

Author

Marconi, R., Grasso, L., Antonini, A., De Gaspari, D., Barone, P., Santangelo, G., Colosimo, C., Meco, G., Avarello, T. P., Bottacchi, E., Cannas, A., Ceravolo, M. G., Ceravolo, R., Cicarelli, G., Gaglio, R. M., Giglia, L., Iemolo, F., Manfredi, M., Nicoletti, A., Pederzoli, M., Petrone, A., Pisani, A., Pontieri, F. E., Quatrale, R., Ramat, S., Scala, R., Volpe, G., Zappulla, S., Bentivoglio, R., Stocchi, F., Trianni, G., Del Dotto, P., Morgante, F., Morgante, L., Fabbrini, G., Benincasa, D., Sensi, M., Braga, M., Capecci, M., Caravona, N., D'Asta, G., De Falco, F. A., Pezzoli, G., Di Giovanni, M., Floris, G., Gallerini, S., Gurgone, G., Frosini, D., Meoni, S., Savica, R., Moschella, V., Pepe, F., Petretta, V., Randisi, M. G., Romeno, M., Picillo, M., Sorbello, V., Tiple, D., Guidubaldi, A., Muoio, R., Toni, V., Logi, C., Bartalini, S., Ulivelli, M., Perini, M., Lanfranchi, S., Griffini, S., Troianiello, B., Baratti, M., Amidei, S., Consoli, D., Iellamo, M., Cuomo, T., Scaglioni, A., Medici, D., Abbruzzese, G., Di Brigida, G., Cocco, G. A., Agnetti, V., Cossu, G., Deriu, M., Abrignani, M., Modica, C., Albani, G., Pradotto, L., Martinelli, P., Scaglione, C., Mucchiut, M., Zanini, S., Pennisi, F., Soliveri, P., Albanese, A., Bartolomei, L., L'Erario, R., Capus, L., Ferigo, L., Marano, R., Nastasi, V., Luciano, R., Maiello, L., Simone, P., Fogli, D., Lopiano, L., Pesare, M., Nordera, G., Pilleri, E., Scaravilli, T., Giaccaglini, E., Alesi, C., Corbetta, T., Sgarbi, S., Rapisarda, A., Rizzoli, S., Zanoli, L., Manfredi, A., Marconi, R, Antonini, A, Barone, P, Colosimo, C, Avarello, Tp, Bottacchi, E, Cannas, A, Ceravolo, Mg, Ceravolo, R, Cicarelli, G, Gaglio, Rm, Giglia, L, Iemolo, F, Manfredi, M, Meco, G, Nicoletti, A, Pederzoli, M, Petrone, A, Pisani, A, Pontieri, Fe, Quatrale, R, Ramat, S, Scala, R, Volpe, G, Zappulla, S, Bentivoglio, Ar, Stocchi, F, Trianni, G, Del Dotto, P, De Gaspari, D, Grasso, L, Morgante, F, Santangelo, Gabriella, Fabbrini, G, Morgante, L, and PRIAMO study, Group

Subjects
Questionnaires, Lung Diseases, Male, Aged, Aged, 80 and over, Attention Deficit Disorder with Hyperactivity, Cardiovascular Diseases, Cognition Disorders, Fatigue, Female, Frontal Lobe, Gastrointestinal Diseases, Humans, Kidney Diseases, Logistic Models, Longitudinal Studies, Middle Aged, Parkinsonian Disorders, Predictive Value of Tests, Skin Diseases, Sleep Wake Disorders, Surveys and Questionnaires, Neuropsychological Tests, 2708, Neurology (clinical), Psychiatry and Mental Health, Neurology, Disease, Logistic regression, Parkinson and cognitive impairment, 80 and over, Verbal fluency test, Neuroradiology, Sleep Disorders, General Medicine, non-motor symptoms, Psychiatry and Mental health, Settore MED/26 - NEUROLOGIA, Frontal lobe, Predictive value of tests, Psychology, medicine.medical_specialty, Dermatology, behavioral disciplines and activities, Internal medicine, medicine, Psychiatry, Surrogate endpoint, Frontal functions, Non-motor symptoms, frontal functions, parkinson and cognitive impairment
Abstract

Using data from the PRIAMO study, we investigated non-motor symptoms (NMS) versus frontal lobe dysfunction in patients with idiopathic Parkinson disease (PD); 808 patients with PD and 118 with atypical parkinsonisms (AP) were consecutively enrolled at 55 Centers in Italy. Twelve categories of NMS were investigated. Cognitive impairment was defined as a Mini-Mental Status Evaluation score ≤ 23.8 and frontal lobe dysfunction as a Frontal Assessment Battery (FAB) score ≤ 3.48. Multivariable logistic regression was used to identify predictor of frontal lobe dysfunction in 524 PD patients, and a generalized linear model was used for each of the six FAB items. Not only the total FAB scores but also the single FAB items were lower in AP versus PD (p ≤ 0.005). Age (OR = 1.05), cognitive impairment (OR = 9.54), lack of cardiovascular symptoms (OR = 3.25), attention or memory problems (OR = 0.59) and treatment with L: -DOPA (OR = 5.58) were predictors of frontal lobe dysfunction. MMSE was negatively associated with all FAB items (β ≤ -0.16) and age with all FAB items but prehension behavior (β ≤ -0.01). Previous use of L: -DOPA was negatively associated with verbal fluency (β = -0.32) possibly acting as surrogate marker of disease duration. Cognitive impairment is a predictor of frontal lobe dysfunction. Among NMS, lack of attention or memory problems were negatively associated with frontal impairment. Further studies are nonetheless needed to better identify the predictors of frontal impairment in PD patients.

Published
2012

11. Non-motor symptoms in atypical and secondary parkinsonism: the PRIAMO study

Author

Colosimo, C, Morgante, L, Antonini, A, Barone, P, Avarello, Tp, Bottacchi, E, Cannas, A, Ceravolo, Mg, Ceravolo, R, Cicarelli, G, Gaglio, Rm, Giglia, L, Iemolo, F, Manfredi, M, Meco, G, Nicoletti, A, Pederzoli, M, Petrone, A, Pisani, A, Pontieri, Fe, Quatrale, R, Ramat, S, Scala, R, Volpe, G, Zappulla, S, Bentivoglio, Ar, Stocchi, F, Trianni, G, Del Dotto, P, Simoni, L, Marconi, R, Priamo, Sg, Benincasa, D, Biguzzi, S, Braga, M, Capecci, M, Caravona, N, D'Asta, G, De Falco, Fa, De Gaspari, D, Pezzoli, G, Di Giovanni, M, Floris, G, Gallerini, S, Grasso, L, Gurgone, G, Kiferle, L, Meoni, S, Morgante, F, Savica, R, Moschella, V, Pepe, F, Petretta, V, Randisi, Mg, Romeno, M, Santangelo, G, Ianniciell, M, Sorbello, V, Fabbrini, G, Berardelli, A, Guidubaldi, A, Muoio, R, Toni, V, Logi, C, Ciacci, G, Ulivelli, M, Perini, M, Lanfranchi, S, Griffini, S, Troianiello, B, Baratti, M, Amidei, S, Consoli, D, Iellamo, M, Cuomo, T, Scaglioni, A, Medici, D, Abbruzzese, Giovanni, Di Brigida, G, Cocco, Ga, Agnetti, V, Cossu, G, Deriu, M, Abrignani, M, Modica, C, Albani, G, Milan, E, Martinelli, P, Scaglione, C, Mucchiut, M, Zanini, S, Pennisi, F, Soliveri, P, Albanese, A, Bartolomei, L, L'Erario, R, Capus, L, Ferigo, L, Marano, R, Nastasi, V, Luciano, R, Maiello, L, Simone, P, Fogli, D, Lopiano, L, Pesare, M, Nordera, G, Pilleri, E, Scaravilli, T, Giaccaglini, E, Alesi, C, Corbetta, T, Dumitriu, A, Sgarbi, S, Rapisarda, A, Rizzoli, S, Zanoli, L, Manfredi, A., Colosimo C., Morgante L., Antonini A., Barone P., Avarello T.P., Bpttacchi E., Cannas A., Ceravolo M.G., Ceravolo R., Cicarelli G., Gaglio R.M., Giglia L., Iemolo F., Manfredi M., Meco G., Nicoletti A., Pederzoli M., Petrone A., Pisani A., Pontieri FE., Quatrale r., Ramat S., Scala R., Volpe G., Zappulla S., Bentivoglio A.R., Stocchi F., Trianni G., Del Dotto P., Simoni L., Marconi R., PRIAMO STUDY GROUP [.., Martinelli P., ], Colosimo, C, Morgante, L, Antonini, A, Barone, Paolo, Avarello, Tp, Bottacchi, E, Cannas, A, Ceravolo, Mg, Ceravolo, R, Cicarelli, G, Gaglio, Rm, Giglia, L, Iemolo, F, Manfredi, M, Meco, G, Nicoletti, A, Pederzoli, M, Petrone, A, Pisani, A, Pontieri, Fe, Quatrale, R, Ramat, S, Scala, R, Volpe, G, Zappulla, S, Bentivoglio, Ar, Stocchi, F, Trianni, G, Del Dotto, P, Simoni, L, Marconi, R, and PRIAMO STUDY, G. R. O. U. P.

Subjects
Male, Secondary, Neurology, secondary parkinsonism, parkinson and cognitive impairment, Neurological disorder, PRIAMO STUDY, Orthostatic vital signs, Prevalence, Corticobasal degeneration, Supranuclear Palsy, Longitudinal Studies, Parkinsonism, Cognitive disorder, Parkinson Disease, Neurodegenerative Diseases, Middle Aged, non-motor symptoms, atypical parkinsonism, Italy, Atypical parkinsonism, Non-motor symptoms, Parkinson and cognitive impairment, Secondary parkinsonism, epidemiology, Settore MED/26 - Neurologia, Female, Supranuclear Palsy, Progressive, Lewy Body Disease, medicine.medical_specialty, Humans, Aged, Parkinson Disease, Secondary, Cross-Sectional Studies, Multiple System Atrophy, Parkinsonian Disorders, Atypical parkinsonism, Non-motor symptoms, Parkinson and cognitive impairment, Secondary parkinsonism, Neurology (clinical), Aged, Cross-Sectional Studies, Female, Humans, Italy, epidemiology, Lewy Body Disease, epidemiology, Longitudinal Studies, Male, Middle Aged, Multiple System Atrophy, epidemiology, Neurodegenerative Diseases, epidemiology, Parkinson Disease, epidemiology, Parkinsonian Disorders, epidemiology, Prevalence, Supranuclear Palsy, Progressive, Progressive supranuclear palsy, Internal medicine, mental disorders, medicine, Dementia with Lewy bodies, business.industry, medicine.disease, nervous system diseases, Physical therapy, business, PARKINSONISM
Abstract

The PRIAMO study is a cross-sectional longitudinal observational study aimed at describing epidemiology and evolution of non-motor symptoms (NMS) in patients with different forms of parkinsonism recruited in 55 Italian centres and evaluated over 24 months. In this paper, we are reporting prevalence and clinical characteristics of NMS in patients with atypical and secondary parkinsonism. Out of 1307 consecutive patients with a diagnosis of parkinsonism, 83 patients had vascular parkinsonism (VP), 34 had multiple system atrophy (MSA), 30 had progressive supranuclear palsy (PSP), 14 had dementia with Lewy bodies (DLB) and 11 had corticobasal degeneration (CBD). MSA and DLB had the highest number of NMS domains and symptoms, respectively. Gastrointestinal symptoms, pain, urinary problems and postural instability due to orthostatic hypotension were most frequent in MSA. Sleep disturbances were also common with a prevalence of approximately 70% in all diagnostic groups but CBD (36%). Psychiatric symptoms and attention and memory impairment were frequently observed in all diagnoses but were most prevalent among DLB patients, whereas the prevalence of skin and respiratory disorders was rather low in all forms, ranging between 10 and 30%. Atypical parkinsonism patients also reported a low QoL, with no significant differences among the different forms, whereas PD and VP patients had a better QoL.

Published
2009

12. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

Author

Di Fonzo, A, Fabrizio, E, Thomas, A, Fincati, E, Marconi, R, Tinazzi, M, Breedveld, Gj, Simons, Ej, Chien, Hf, Ferreira, Jj, Horstink, Mw, Abbruzzese, G, Borroni, B, Cossu, G, Dalla Libera, A, Fabbrini, G, Guidi, M, De Mari, M, Lopiano, L, Martignoni, E, Marini, P, Onofrj, M, Padovani, A, Stocchi, F, Toni, V, Sampaio, C, Barbosa, Er, Meco, G, Antonini, A, Oostra BA, Bonifati V., Di Fonzo A., Chien H.F., Socal M., Giraudo S., Tassorelli C., Illiceto G., Fabbrini G., Marconi R., Fincati E., Abbruzzese G., Marini P., Squitieri F., Horstink M.W., Montagna P., Libera A.D., Stocchi F., Goldwurm S., Ferreira J.J., Meco G., Martignoni E., Lopiano L., Jardim L.B., OOstra B.A., Barbosa E.R., The Italian Parkinson Genetics Network, Bonifati V., Erasmus MC other, and Clinical Genetics

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Genotype, assessment, DNA Mutational Analysis, Mutation, Missense, patients, Central nervous system disease, Cohort Studies, Diagnosis, Differential, Degenerative disease, Parkinsonian Disorders, medicine, Prevalence, Dementia, Missense mutation, Humans, Genetic Predisposition to Disease, young onset Parkinson disease, Genetic Testing, Age of Onset, juvenile parkinsonism, Child, Genetics, business.industry, Parkinsonism, ATP13A2 gene mutations, Brain, Parkinson Disease, Middle Aged, medicine.disease, Young onset Parkinson disease, Proton-Translocating ATPases, Phenotype, Italy, Kufor Rakeb syndrome, Female, Neurology (clinical), business, Brazil
Abstract

To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD).We studied 46 patients, mostly from Italy or Brazil, including 11 with juvenile parkinsonism and 35 with YOPD. Thirty-three cases were sporadic and 13 had positive family history compatible with autosomal recessive inheritance. Forty-two had only parkinsonian signs, while four (all juvenile-onset) had multisystemic involvement. The whole ATP13A2 coding region (29 exons) and exon-intron boundaries were sequenced from genomic DNA.A novel homozygous missense mutation (Gly504Arg) was identified in one sporadic case from Brazil with juvenile parkinsonism. This patient had symptoms onset at age 12, levodopa-responsive severe akinetic-rigid parkinsonism, levodopa-induced motor fluctuations and dyskinesias, severe visual hallucinations, and supranuclear vertical gaze paresis, but no pyramidal deficit nor dementia. Brain CT scan showed moderate diffuse atrophy. Furthermore, two Italian cases with YOPD without atypical features carried a novel missense mutation (Thr12Met, Gly533Arg) in single heterozygous state.We confirm that ATP13A2 homozygous mutations are associated with human parkinsonism, and expand the associated genotypic and clinical spectrum, by describing a homozygous missense mutation in this gene in a patient with a phenotype milder than that initially associated with ATP13A2 mutations (Kufor-Rakeb syndrome). Our data also suggest that ATP13A2 single heterozygous mutations might be etiologically relevant for patients with YOPD and further studies of this gene in Parkinson disease are warranted.

Published
2007

13. Anxiété dans le cadre de soins palliatifs

Author

Pautex, Sophie Marie, Toni, V, Bossert, P, Hilleret, Henriette, Ducloux, Dominique, Forestier, Jeanne Marie-Louise, Cabotte, E, Philippin, Yves Nicolas Auguste, Guisado, Huguette, and Vogt-Ferrier, Nicole Barbara

Subjects
Anxiety/diagnosis/etiology/therapy, Surveys and Questionnaires, ddc:618.97, Humans, Palliative Care/psychology
Abstract

In palliative care, the intensity and duration of anxiety as well as its consequences on the patient's daily activities can significantly decrease his quality of life. Anxiety that does not incapacitate the patient to the point of his being unable to communicate or perform his usual activities does not necessarily require drug treatment. The non pharmacological treatments of anxiety are presented in some detail. Prescription of anxiolytic drugs in renal or hepatic failure, as well as when oral intake or venous access are difficult, is briefly discussed.

Published
2006

14. The progression of non-motor symptoms in Parkinson's disease and their contribution to motor disability and quality of life

Author

Antonini, Angelo, Barone, Paolo, Marconi, R, Morgante, Letterio, Zappulla, S, Pontieri, Fe, Ramat, Silvia, Ceravolo, Mg, Meco, Giuseppe, Cicarelli, G, Pederzoli, M, Manfredi, Michela, Ceravolo, R, Mucchiut, M, Volpe, Giampiero, Abbruzzese, Giovanni, Bottacchi, E, Bartolomei, Luigi, Ciacci, G, Cannas, A, Randisi, Mg, Petrone, Alfredo, Baratti, M, Toni, V, Cossu, G, Del Dotto, P, Bentivoglio, Anna Rita, Abrignani, M, Scala, R, Pennisi, F, Quatrale, Rocco, Gaglio, Rm, Nicoletti, Alessandra, Perini, M, Avarello, T, Pisani, A, Scaglioni, A, Martinelli, Pe, Iemolo, F, Ferigo, L, Simone, P, Soliveri, Paola, Troianiello, B, Consoli, D, Mauro, A, Lopiano, L, Nastasi, G, Colosimo, C., Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Antonini, Angelo, Barone, Paolo, Marconi, R, Morgante, Letterio, Zappulla, S, Pontieri, Fe, Ramat, Silvia, Ceravolo, Mg, Meco, Giuseppe, Cicarelli, G, Pederzoli, M, Manfredi, Michela, Ceravolo, R, Mucchiut, M, Volpe, Giampiero, Abbruzzese, Giovanni, Bottacchi, E, Bartolomei, Luigi, Ciacci, G, Cannas, A, Randisi, Mg, Petrone, Alfredo, Baratti, M, Toni, V, Cossu, G, Del Dotto, P, Bentivoglio, Anna Rita, Abrignani, M, Scala, R, Pennisi, F, Quatrale, Rocco, Gaglio, Rm, Nicoletti, Alessandra, Perini, M, Avarello, T, Pisani, A, Scaglioni, A, Martinelli, Pe, Iemolo, F, Ferigo, L, Simone, P, Soliveri, Paola, Troianiello, B, Consoli, D, Mauro, A, Lopiano, L, Nastasi, G, Colosimo, C., and Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X)

Abstract

Non-motor symptoms are gaining relevance in Parkinson's disease (PD) management but little is known about their progression and contribution to deterioration of quality of life. We followed prospectively 707 PD patients (62 % males) for 2 years. We assessed non-motor symptoms referred to 12 different domains, each including 1-10 specific symptoms, as well as motor state (UPDRS), general cognition, and life quality. Hoehn & Yahr (H&Y) stage was used to categorize patient status (I-II mild; III moderate; IV-V severe). We found that individual non-motor symptoms had variable evolution over the 2-year follow-up with sleep, gastrointestinal, attention/memory and skin disturbances (hyperhidrosis and seborrhea) becoming more prevalent and psychiatric, cardiovascular, and respiratory disorders becoming less prevalent. Development of symptoms in the cardiovascular, apathy, urinary, psychiatric, and fatigue domains was associated with significant life-quality worsening (p < 0.0045, alpha with Bonferroni correction). During the observation period, 123 patients (17 %) worsened clinically while 584 were rated as stable. There was a fivefold greater increase in UPDRS motor score in worse compared with stable patients over 24 months (p < 0.0001 vs. baseline both in stable and worse group). The total number of reported non-motor symptoms increased over 24 months in patients with motor worsening compared to stable ones (p < 0.001). Thirty-nine patients died (3.4 % of patients evaluable at baseline) with mean age at death of 74 years. Deceased patients were older, had significantly higher H&Y stage and motor score, and reported a greater number of non-motor symptoms at baseline. In conclusion, overall non-motor symptom progression does not follow motor deterioration, is symptom-specific, and only development of specific domains negatively impacts quality of life. These results have consequences for

Published
2012

15. Professional Correctional Management Operating a Death Row Population: Putting Theory into Practice.

Author

Bair, Toni V.

Subjects
*MANAGEMENT of corrections (Criminal justice administration), *LEGAL status of death row inmates, *REASONABLE care (Law), *PRISONERS' rights, *STATE laws, *MANAGEMENT of correctional institutions, *MUNICIPAL ordinances
Abstract

The article discusses the author's views about professional correctional management, decisive leadership, and the legal rights of death row inmates and prisoners under the Constitution of the U.S., local ordinances, and state laws in America. A legal duty of care is addressed in relation to U.S. corrections institutions and incarcerated individuals. The author's experiences at North Carolina's Mecklenburg Correctional Center are assessed, along with corrections practices and theories.

Published
2016

16. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Author

Bonifati, V., Rohe, C.F., Breedveld, G.J., Fabrizio, E., Mari, M. De, Tassorelli, C., Tavella, A., Marconi, R., Nicholl, D., Chien, H.F., Fincati, E., Abbruzzese, G., Marini, P., Gaetano, A. De, Horstink, M.W.I.M., Maat-Kievit, J.A., Sampaio, C., Antonini, A., Stocchi, F., Montagna, P., Toni, V., Guidi, M., Dalla Libera, A., Tinazzi, M., Pandis, F. De, Goldwurm, S., Klein, A. de, Barbosa, E., Lopiano, L., Martignoni, E., Lamberti, P., Vanacore, N., Meco, G., Oostra, B.A., Bonifati, V., Rohe, C.F., Breedveld, G.J., Fabrizio, E., Mari, M. De, Tassorelli, C., Tavella, A., Marconi, R., Nicholl, D., Chien, H.F., Fincati, E., Abbruzzese, G., Marini, P., Gaetano, A. De, Horstink, M.W.I.M., Maat-Kievit, J.A., Sampaio, C., Antonini, A., Stocchi, F., Montagna, P., Toni, V., Guidi, M., Dalla Libera, A., Tinazzi, M., Pandis, F. De, Goldwurm, S., Klein, A. de, Barbosa, E., Lopiano, L., Martignoni, E., Lamberti, P., Vanacore, N., Meco, G., and Oostra, B.A.

Abstract

Item does not contain fulltext, OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (<50 years) parkinsonism. METHODS: The authors studied 134 patients (116 sporadic and 18 familial; 77% Italian) and 90 Italian controls. The whole PINK1 coding region was sequenced from genomic DNA; cDNA was analyzed in selected cases. RESULTS: Homozygous pathogenic mutations were identified in 4 of 90 Italian sporadic cases, including the novel Gln456Stop mutation; single heterozygous truncating or missense mutations were found in another 4 Italian sporadic cases, including two novel mutations, Pro196Leu and Gln456Stop. Pathogenic mutations were not identified in the familial cases. Novel (Gln115Leu) and known polymorphisms were identified with similar frequency in cases and controls. In cases carrying single heterozygous mutation, cDNA analysis detected no additional mutations, and revealed a major pathogenic effect at mRNA level for the mutant C1366T/Gln456Stop allele. All patients with homozygous mutations had very early disease onset, slow progression, and excellent response to l-dopa, including, in some, symmetric onset, dystonia at onset, and sleep benefit, resembling parkin-related disease. Phenotype in patients with single heterozygous mutation was similar, but onset was later. CONCLUSIONS: PINK1 homozygous mutations are a relevant cause of disease among Italian sporadic patients with early-onset parkinsonism. The role of mutations found in single heterozygous state is difficult to interpret. Our study suggests that, at least in some patients, these mutations are disease causing, in combination with additional, still unknown factors.

Published
2005

17. The PRIAMO study: age- and sex-related relationship between prodromal constipation and disease phenotype in early Parkinson’s disease

Author

L Grasso, Silvia Ramat, Simone Gallerini, Paolo Barone, G. Di Brigida, D. Fogli, Tommaso Scaravilli, M. Braga, Alessandra Nicoletti, M. Romeno, Paolo Martinelli, G. Gurgone, Cesare Colosimo, E. Pilleri, V. Sorbello, S. Amidei, F. Pennisi, Francesco Iemolo, Giorgio Trianni, Vincenzo Toni, E. Milan, Raffaele Palladino, D. Benincasa, Giovanni Pezzoli, M. G. Randisi, Alfredo Petrone, Arianna Guidubaldi, R. Alfano, Tania P. Avarello, A. Scaglioni, Anna Rita Bentivoglio, C. Modica, L. Ferigo, M. Manfredi, Domenico Consoli, Giuseppe Meco, Giampiero Volpe, S. Griffini, Francesca Morgante, R. Scala, G. Nordera, Angelo Antonini, G. Floris, Roberto Erro, R. Muoio, Salvatore Zappulla, Luigi Bartolomei, Edo Bottacchi, Antonio Pisani, V. Petretta, Giovanni Fabbrini, G. Ciacci, L. Maiello, G. Ceravolo, M. Di Giovanni, V. Nastasi, Rocco Quatrale, D. Tiple, Marcello Deriu, S. Lanfranchi, Marianna Capecci, Alberto Albanese, T. Cuomo, Francesco E. Pontieri, Vincenzo Moschella, G. Sciortino, F. A. De Falco, S. Biguzzi, Leonardo Lopiano, Marina Picillo, C. Alesi, D. De Gaspari, Michele Abrignani, Gabriella Santangelo, Fabrizio Stocchi, R. Luciano, M. Baratti, R. M. Giglia, Cesa Scaglione, B. Troianiello, Giovanni Abbruzzese, M. Mucchiut, F. Pepe, S. Zanini, L. Capus, N. Caravona, Giovanni Cossu, V. Agnetti, G. Albani, L. Kiferle, E. Giaccaglini, Roberto Marconi, M. Iellamo, R. Marano, D. Medici, Monica Ulivelli, G. A. Cocco, M. Perini, P. Del Dotto, Rosa M. Gaglio, Rodolfo Savica, C. Logi, G. Ciccarelli, P. Massimo, M. Pesare, Antonino Cannas, Roberto Ceravolo, P. Simone, Letterio Morgante, P. Soliveri, S. Meoni, Picillo, M., Palladino, R., Erro, R., Alfano, R., Colosimo, C., Marconi, R., Antonini, A., Barone, P., Morgante, L., Benincasa, D., Quatrale, R., Biguzzi, S., Braga, M., Ceravolo, G., Capecci, M., Meco, G., Caravona, N., Scala, R., De Falco, F. A., Pezzoli, G., De Gaspari, D., Bottacchi, E., Di Giovanni, M., Cannas, A., Floris, G., Gallerini, S., Grasso, L., Gaglio, R. M., Gurgone, G., Volpe, G., Zappulla, S., Ceravolo, R., Kiferle, L., Ramat, S., Meoni, S., Pisani, A., Moschella, V., Morgante, F., Savica, R., Pepe, F., Ciccarelli, G., Petretta, V., Giglia, R. M., Randisi, M. G., Iemolo, F., Avarello, T. P., Romeno, M., Santangelo, G., Stocchi, F., Sciortino, G., Sorbello, V., Nicoletti, A., Tiple, D., Fabbrini, G., Bentivoglio, A., Pontieri, F. E., Guidubaldi, A., Muoio, R., Toni, V., Del Dotto, P., Logi, C., Ciacci, G., Ulivelli, M., Perini, M., Lanfranchi, S., Griffini, S., Troianiello, B., Baratti, M., Amidei, S., Consoli, D., Iellamo, M., Cuomo, T., Scaglioni, A., Medici, D., Manfredi, M., Abbruzzese, G., Di Brigida, G., Cocco, G. A., Agnetti, V., Cossu, G., Deriu, M., Abrignani, M., Modica, C., Albani, G., Milan, E., Martinelli, P., Scaglione, C., Mucchiut, M., Zanini, S., Pennisi, F., Soliveri, P., Albanese, A., Massimo, P., Bartolomei, L., Capus, L., Ferigo, L., Marano, R., Nastasi, V., Luciano, R., Maiello, L., Simone, P., Fogli, D., Lopiano, L., Pesare, M., Nordera, G., Pilleri, E., Scaravilli, T., Giaccaglini, E., Alesi, C., Petrone, A., and Trianni, G.

Subjects
Male, Neurology, Parkinson's disease, Constipation, Heterogeneity, Parkinson, Phenotype, Prodromal, Sex, PROGRESSION, Disease, 0302 clinical medicine, Apathy, Neuroradiology, Original Communication, Cognition, Parkinson Disease, 030211 gastroenterology & hepatology, Female, medicine.symptom, NONMOTOR SYMPTOMS, Life Sciences & Biomedicine, PRIAMO study group, Human, medicine.medical_specialty, Clinical Neurology, Prodromal Symptoms, Prodromal Symptom, 03 medical and health sciences, Internal medicine, medicine, Humans, Clinical phenotype, Aged, Science & Technology, Neurology & Neurosurgery, business.industry, 1103 Clinical Sciences, Biomarker, medicine.disease, DYSFUNCTION, Biomarkers, Neurology (clinical), Neurosciences & Neurology, business, 1109 Neurosciences, 030217 neurology & neurosurgery
Abstract

Objectives To explore the impact of sex and age on relationship between prodromal constipation and disease phenotype in Parkinson’s disease at early stages. Methods A total of 385 Parkinson’s disease patients from the PRIAMO study were classified according to the presence of prodromal constipation and followed for 24 months. Multivariable mixed-effect models were applied. All analyses were performed separately for sex (64.1% men) and median age (different by sex: 67 years-old in men and 68 years-old in women). Results As for sex, prodromal constipation was associated with greater odds of attention/memory complaints and apathy symptoms in women only. As for age, prodromal constipation was associated with lower cognitive and higher apathy scores in older patients only. Conclusions Prodromal constipation anticipates lower cognitive performances and more severe apathy since the earliest stages in women and older patients. Sex- and age-related heterogeneity of prodromal markers of Parkinson’s disease may impact disease phenotype.

Published
2021

18. Fluphenazine-Induced Neurotoxicity with Acute Almost Transient Parkinsonism and Permanent Memory Loss: Lessons from a Case Report.

Author

De Masi R, Orlando S, Toni V, and Costa MC

Subjects
Female, Humans, Adult, Fluphenazine adverse effects, Amnesia, Memory Disorders chemically induced, Parkinsonian Disorders, Parkinson Disease, Secondary chemically induced, Antipsychotic Agents adverse effects
Abstract

We report the singular case of a 31-year-old woman who developed very serious Fluphenazine-induced parkinsonism over a few days due to a doubly incongruent drug prescription by indication and dosage having been applied to a healthy subject over one week instead of seven months. Unlike gradual drug-induced parkinsonism, our patient experienced acute extrapyramidal syndrome (EPS), reaching significant motor and sphincter disability in just a few days, followed by a gradual incomplete recovery over more than six months. In fact, after drug discontinuation, hypomimia and slight left hemi-somatic rigidity with bradykinesia remained, as well as stable non-progressive memory disturbances. Despite bio-humoral and instrumental investigations and DaTScan were negative, MRI post-analysis evidenced a 6.5% loss in brain volume. Specifically, irreversible cortical and sub-cortical grey matter reduction and cerebrospinal fluid space enlargement with spared white matter were found. Our observations suggest that the sudden availability of Fluphenazine results in a kind of plateau effect of parkinsonism presentation, partially reversible due to the neurotoxic drug effect on the cortical and sub-cortical grey matter, resulting in asymmetric EPS and stable memory loss, respectively. Our report confirms the debated neurotoxicity of first-generation neuroleptics and the postulated theory of differential susceptibility to the cytotoxic stressors on the central nervous system.

Published
2023
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19. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

Author

Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohé CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, and Bonifati V

Subjects
Adult, Aged, Alternative Splicing, Amino Acid Sequence, Animals, Disease Progression, Exons, Family Health, Female, Genes, Dominant, Genetic Testing, Genotype, Heterozygote, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Models, Genetic, Molecular Sequence Data, Mutation, Open Reading Frames, Pedigree, Phenotype, Polymorphism, Genetic, Protein Serine-Threonine Kinases metabolism, Protein Structure, Tertiary, Parkinson Disease genetics, Protein Serine-Threonine Kinases genetics, Protein Serine-Threonine Kinases physiology
Abstract

Mutations in the gene leucine-rich repeat kinase 2 (LRRK2) have been recently identified in families with Parkinson's disease (PD). However, the prevalence and nature of LRRK2 mutations, the polymorphism content of the gene, and the associated phenotypes remain poorly understood. We performed a comprehensive study of this gene in a large sample of families with Parkinson's disease compatible with autosomal dominant inheritance (ADPD). The full-length open reading frame and splice sites of the LRRK2 gene (51 exons) were studied by genomic sequencing in 60 probands with ADPD (83% Italian). Pathogenic mutations were identified in six probands (10%): the heterozygous p.G2019S mutation in four (6.6%), and the heterozygous p.R1441C mutation in two (3.4%) probands. A further proband carried the heterozygous p.I1371 V mutation, for which a pathogenic role could not be established with certainty. In total, 13 novel disease-unrelated variants and three intronic changes of uncertain significance were also characterized. The phenotype associated with LRRK2 pathogenic mutations is the one of typical PD, but with a broad range of onset ages (mean 55.2, range 38-68 years) and, in some cases, slow disease progression. On the basis of the comprehensive study in a large sample, we conclude that pathogenic LRRK2 mutations are frequent in ADPD, and they cluster in the C-terminal half of the encoded protein. These data have implications both for understanding the molecular mechanisms of PD, and for directing the genetic screening in clinical practice.

Published
2006
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