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1. 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

2. 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

3. 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

4. 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

5. 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

6. Anhedonia and cognitive impairment in Parkinson's disease: Italian validation of the Snaith-Hamilton Pleasure Scale and its application in the clinical routine practice during the PRIAMO study

Author

Santangelo, G, Morgante, L, Savica, R, Marconi, R, Grasso, L, Antonini, A, De Gaspari, D, Ottaviani, D, Tiple, D, Simoni, L, Barone, P, Priamo, Sg, Colosimo, C, Benincasa, D, Biguzzi, S, Braga, M, Capecci, M, Caravona, N, De Falco, Fa, Pezzoli, G, Di Giovanni, M, Floris, G, Gallerini, S, Gurgone, G, Kiferle, L, Meoni, S, Moschella, V, Morgante, F, Pepe, F, Petretta, V, Randisi, Mg, Romeno, M, Ianniciello, M, Sciortino, G, Guzzardi, Po, Sorbello, V, Fabbrini, G, Guidubaldi, A, Muoio, R, Toni, V, Ferrari, Po, 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, Molinette, As, Nordera, G, Pilleri, E, Scaravilli, T, Giaccaglini, E, Alesi, C, Corbetta, T, Dumitriu, A, Ingelheim, B, Sgarbi, S, Rapisarda, A, Rizzoli, S, Zanoli, L, Manfredi, A., Santangelo, Gabriella, Morgante, L, Savica, R, Marconi, R, Grasso, L, Antonini, A, De Gaspari, D, Ottaviani, D, Tiple, D, Simoni, L, Barone, P, PRIAMO Study, Group, Santangelo, G, Barone, Paolo, and PRIAMO Study, G. r. o. u. p.

Subjects
Male, medicine.medical_specialty, Parkinson's disease, media_common.quotation_subject, Multilingualism, Pilot Projects, Test validity, Affect (psychology), behavioral disciplines and activities, Aged, Aged, 80 and over, Cognition Disorders, diagnosis/epidemiology/psychology, Depressive Disorder, Major, diagnosis/epidemiology/psychology, Female, Humans, Italy, epidemiology, Male, Middle Aged, Multilingualism, Parkinson Disease, diagnosis/epidemiology/psychology, Pilot Projects, Psychiatric Status Rating Scales, standards, Reproducibility of Results, Pleasure, medicine, 80 and over, Humans, Psychiatry, Depression (differential diagnoses), media_common, Aged, Aged, 80 and over, Psychiatric Status Rating Scales, Depressive Disorder, Major, Depressive Disorder, Parkinsonism, Anhedonia, Reproducibility of Results, Parkinson Disease, Middle Aged, medicine.disease, Test (assessment), Neurology, Italy, standards, Female, epidemiology, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, Psychology, Cognition Disorders, diagnosis/epidemiology/psychology, Clinical psychology
Abstract

To assess the psychometric properties of the Italian version of the Snaith-Hamilton Pleasure Scale (SHAPS) and to study the relationship between anhedonia, depression and cognitive impairment in patients with Parkinson's disease (PD).The SHAPS (14 items) was translated into Italian and pre-tested in a pilot study. Two items evaluating physical anhedonia related to sexual issues were added. The Italian version of SHAPS was validated in 274 consecutive PD patients, divided into patients with major depression according to DSM-IV criteria (dPD) and patients without depression (nPD), and in healthy subjects. To test the feasibility of the instrument and to determine whether clinical data affect anhedonia, we also administered SHAPS to 1307 patients with different types of parkinsonism.The Italian SHAPS proved to be easy to understand as regards the question and answer modes. Intraclass coefficient for test-retest reliability was 0.65 for the total score. KR index was 0.61. ANOVA of the SHAPS total score revealed that scores were higher in dPD patients than in healthy controls and nPD (p0.05). In the 1307 patients with various types of parkinsonism, the SHAPS data showed that anhedonia was related to age, type of parkinsonism, apathy, depression and cognitive impairment. Anhedonia was correlated with frontal dysfunctions in supranuclear palsy and PD patients (r=-0.682 and -0.264 respectively, p0.05).The Italian version of the SHAPS is a reliable tool with which to assess anhedonia in patients with PD and other forms of parkinsonism.

Published
2009

7. 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

8. The Italian multicenter observational study on post-stroke depression (DESTRO)

Author

Paolucci, S. T., Gandolfo, C., Provinciali, L., Torta, R., TOSO AND ON THE BEHALF OF THE DESTRO STUDY GROUP, V., Lagalla, THE DESTRO STUDY GROUP INCLUDES G., Manicone, M. G., Del, M., Gobbo, Paolini, S., Ancona, Bottacchi, E., Corso, G., Aosta, Federico, F., Martino, D, Bari, Salsa, F., Turinese, E., BASSANO DEL GRAPPA VI, Gentile, M., Bogo, S., Belluno, Crisci, M., Sacquegna, T., Bologna, Santamato, V., Pietrarossa, G., Carbonara, Ba, Coppola, G., Toni, V., Trianni, G., Casarano, Le, Pennisi, Giovanni, Bella, Rita, Catania, Ricci, S., Amantini, K., Città, DELLA PIEVE PG, Buzzelli, S., DI FRANCESCO, L., ANGELO PE, CITTÀ S., Antonelli, B, Pelliccia, G., Fermo, Ap, Paolino, E., Iezzi, E., Ferrara, P, Nencini, Sarti, C., Florence, Neri, W., Galletti, G., Forli, Pretta, S., Sette, Genoa, Giaccaglini, E., Sconocchini, C., Iesi, An, Carolei, A., Capannolo, C, Laquila, Musolino, R., Gangemi, S., Vita, G., DI LEO, R., Messina, Comola, M., Mammi, S., Zamperetti, M. A., Defanti, C. A., Milan, DE FALCO, F. A., Santangelo, R., Scarano, V., Naples, M. T, Giordana, Sciolla, R., Orbassano, To, Meneghetti, G., Ottina, M., Padua, Ponari, A., Castiglia, R., Palermo, Mancia, D., Zanferrari, C., Parma, Micieli, G., Zambrelli, E., Pavia, Cardaioli, G., Gallai, V., Perugia, Badino, R., Tassinari, T., PIETRA LIGURE SV, Orlandi, G., Fanucchi, S., Pisa, Ciucci, G., Padoan, G., Ravenna, Gasparini, F., Guidetti, D., Reggio, Emilia, DE ANGELIS, D., Amabile, G. A., Fiermonte, G., Rome, Roberti, C., Foti, A., Roma, Cainelli, L., Chiusole, M., Rovereto, Tn, Pasqualino, S., Intiso, D., GIOVANNI ROTONDO FG, S., Tonizzo, M., Basile, A., VITO AL, S., Tagliamento, Pn, Viviani, P., SANT ARSENIO SA, Stromillo, M. L., Federico, A, Siena, Liboni, W., Pavanelli, E., Bergamasco, B., Cerrato, P., Boghi, A, Cicolin, A., Berra, C., Turin, Zorzon, M., Tommasi, M. A., Chiodo, F., Grandi, Koscica, N., Trieste, Micoli, B., Lorio, R., Venice, Bovi, P., Trabucco, G., Verona, Consoli, D., Galati, F., and Vibo, Valentia

Subjects
Adult, Male, medicine.medical_specialty, Pediatrics, Time Factors, Adolescent, Personality Inventory, Physical examination, Observation, Disability Evaluation, Quality of life, medicine, History of depression, Post-stroke depression, Humans, Psychiatry, Stroke, Depression (differential diagnoses), Aged, Retrospective Studies, Aged, 80 and over, Psychiatric Status Rating Scales, Chi-Square Distribution, medicine.diagnostic_test, Depression, Beck Depression Inventory, Retrospective cohort study, Middle Aged, medicine.disease, Neurology, Italy, Female, Neurology (clinical), Psychology
Abstract

Despite growing information, questions still surround various aspects of post-stroke depression (PSD). The Italian multicenter observational study Destro was designed to help clarify in a large sample the frequency and clinical impact of PSD. A total of 53 centers consecutively admitted 1064 patients with ischemic or hemorrhagic stroke, assessing them periodically in the first 9 months after the event. Patients with depression were followed for two years. Depression was diagnosed on clinical examination, verbal (Beck Depression Inventory) and non-verbal rating systems (Visual Analog Mood Scale), identifying the nosographic condition attributable to the mental state. The patient's clinical history, residual independence, and post-ictus quality of life were also taken into account. PSD was detected in 383 patients (36 %), most of whom had minor depression (80.17 %), with dysthymia, rather than major depression and adaptation disorder. About 80% developed depression within three months of the stroke. Cases with later onset tended to have less severe symptoms. Risk factors were a history of depression, severe disability, previous stroke and female sex, but not the type and site of the vascular lesion. PSD was not correlated with any increase in mortality or cerebrovascular recurrences, but these patients had lower autonomy and quality of life ratings. In conclusion, patients should be close observed in the first few weeks after a stroke in order to check for depression,which is more likely in those with clear risk factors and may spoil their quality of life.

Published
2006

9. Quantification of the risk of post stroke depression : the Italian multicenter observational study DESTRO

Author

Paolucci, S., Gandolfo, C., Provinciali, L., Torta, R., SOMMACAL ON BEHALF OF, S., DESTRO STUDY GROUP AND, Lagalla, V. TOSOPARTICIPANTS IN THE DESTRO STUDY INCLUDE G., M. G, Manicone, DEL GOBBO, M., Paolini, S., Ancona, Bottacchi, E., Corso, G., Aosta, Federico, F., Martino, D., Bari, Salsa, F., Turinese, E, BASSANO DEL GRAPPA VI, Gentile, M., Bogo, S., Belluno, Crisci, M., Sacquegna, T., Bologna, Santamato, V., Pietrarossa, G, Carbonara, Ba, Coppola, G., Toni, V., Trianni, G, Casarano, Le, Pennisi, Giovanni, Bella, Rita, Catania, S, Ricci, Amantini, K., CITTA DELLA PIEVE PG, Buzzelli, S., Di, L., Francesco, ANGELO PE, CITTA S., Antonelli, B., Pelliccia, G., Fermo, Ap, Paolino, E., Iezzi, E., Ferrara, Nencini, P., Sarti, C., Florence, Neri, W., Galletti, G., Forli, Pretta, S., DEL SETTE, M., Genoa, Giaccaglini, E., Sconocchini, C., Iesi, An, Carolei, A., Capannolo, C., Laquila, Musolino, R., Gangemi, S., Vita, G., DI LEO, R., Messina, Comola, M., Mammi, S., Zamperetti, M. A., Defanti, C. A., Grassivaro, N., Rudelli, G., Milan, F. A., De, Falco, Santangelo, R., Scarano, V., Naples, M. T, Giordana, Sciolla, R., Orbassano, To, Meneghetti, G., Ottina, M, Padua, Ponari, A., Castiglia, R., Palermo, Mancia, D., Zanferrari, C, Parma, Micieli, G., Zambrelli, E., Pavia, Cardaioli, G., Gallai, V., Perugia, Badino, R., Tassinari, T., Pietra, Ligure, Orlandi, G., Fanucchi, S., Pisa, Ciucci, G., Padoan, G., Ravenna, Gasparini, F., Guidetti, D., Reggio, Emilia, De, D., Angelis, Amabile, G. A., FIERMONTE ROME, G., Roberti, C., Foti, A, Roma, Cainelli, L., Chiusole, M., Rovereto, Tn, Pasqualino, S, Intiso, D., GIOVANNI ROTONDO FG, S., Tonizzo, M., Basile, A., VITO AL TAGLIAMENTO PN, S., Viviani, P., Santarsenio, Sa, Stromillo, M. L., Federico, A., Siena, W, Liboni, Pavanelli, E., Bergamasco, B., Cerrato, P., Boghi, A., Cicolin, A, Berra, C., Turin, Zorzon, M., Tommasi, M. A., F, Chiodo, Grandi, Koscica, N., Trieste, Micoli, B., Lorio, R., Venice, Bovi, P., Trabucco, G., Verona, Consoli, D., Galati, F., Vibo, Valentia, Bortolon, F., Morra, M., Vicenza, and Crespi, V.

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Multivariate analysis, Adolescent, Sex Factors, Risk Factors, mental disorders, medicine, Humans, Disabled Persons, Risk factor, Stroke, Depression (differential diagnoses), Aged, Aged, 80 and over, Psychiatric Status Rating Scales, Depression, business.industry, Beck Depression Inventory, Middle Aged, medicine.disease, Psychiatry and Mental health, Mood, Italy, Relative risk, Physical therapy, Female, Observational study, business, Follow-Up Studies
Abstract

Objective: The Italian multicenter observational study depression in stroke (DESTRO) aimed to identify risk factors for poststroke depression (PSD) and quantify the likelihood of it arising in various categories of patients. Method: Mood evaluation was performed in 1064 consecutive stroke patients by means of Beck Depression Inventory and Visual Analog Mood Scale. Depressive symptoms were classified using the DSM-IV and revised WHO criteria for depression in the course of a neurological disorder. Results: Poststroke depression was seen in 36% of the survivors, with dysthymia by far the predominant form (80.7%). Female sex, disability, previous cerebrovascular or depressive episodes were significantly associated with an increased risk of depression. Combinations of these factors raised the risk of PSD exponentially, from 24.3 to 89.1%. The site of the stroke did not come into the uni- or multivariate analysis. Conclusion.: At admission, it is possible to predict the likelihood of PSD and quantify the relative risk.

Published
2005

10. 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

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