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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
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2. Which patients discontinue? Issues on Levodopa/carbidopa intestinal gel treatment: Italian multicentre survey of 905 patients with long-term follow-up

Author

Sensi, M., Cossu, G., Mancini, F., Pilleri, M., Zibetti, M., Modugno, N., Quatrale, R., Tamma, F., Antonini, A., Aguggia, M., Amboni, M., Arca, R., Bartolomei, L., Bonetto, N., Calandra-Buonaura, G., Bove, F., Calandrella, D., Canesi, M., Cannas, A., Capecci, M., Caputo, E., Ceravolo, M. G., Ceravolo, R., Cerrone, G., Coletti Moja, M., Comi, C., Cortelli, P., D'Antonio, P., Dematteis, F., Di Lazzaro, V., Eleopra, R., Fabbrini, G., Fichera, M., Grassi, E., Guido, M., Gusmaroli, G., Latorre, A., Malaguti, M. C., Marano, M., Marano, P., Marconi, R., Mazzucchi, S., Meco, G., Minafra, B., Morgante, F., Pacchetti, C., Pierantozzi, M., Pontieri, F. E., Riboldazzi, G., Ricchi, V., Ricchieri, G., Rinaldo, S., Rispoli, V., Rossi, S., Rubino, A., Russo, A., Saddi, M. V., Stefani, A., Simoni, S., Solla, P., Tambasco, N., Tamburin, S., Tessitore, A., Torre, E., Ulivelli, M., Vita M., Gi, Volonté, M. A., on behalf of the, ITALIAN LEVODOPA CARBIDOPA INTESTINAL GEL WORKING GROUP, Sensi, M., Cossu, G., Mancini, F., Pilleri, M., Zibetti, M., Modugno, N., Quatrale, R., Tamma, F., Antonini, A., Aguggia, M., Amboni, M., Arca, R., Bartolomei, L., Bonetto, N., Calandra-Buonaura, G., Bove, F., Calandrella, D., Canesi, M., Cannas, A., Capecci, M., Caputo, E., Ceravolo, M. G., Ceravolo, R., Cerrone, G., Coletti Moja, M., Comi, C., Cortelli, P., D'Antonio, P., Dematteis, F., Di Lazzaro, V., Eleopra, R., Fabbrini, G., Fichera, M., Grassi, E., Guido, M., Gusmaroli, G., Latorre, A., Malaguti, M. C., Marano, M., Marano, P., Marconi, R., Mazzucchi, S., Meco, G., Minafra, B., Morgante, F., Pacchetti, C., Pierantozzi, M., Pontieri, F. E., Riboldazzi, G., Ricchi, V., Ricchieri, G., Rinaldo, S., Rispoli, V., Rossi, S., Rubino, A., Russo, A., Saddi, M. V., Stefani, A., Simoni, S., Solla, P., Tambasco, N., Tamburin, S., Tessitore, A., Torre, E., Ulivelli, M., Vita, M. G., Volonte, M. A., Sensi, Mariachiara, Cossu, Giovanni, Mancini, Francesca, Pilleri, Manuela, Zibetti, Maurizio, Modugno, Nicola, Quatrale, Rocco, Tamma, Filippo, Antonini, Angelo, Italian Levodopa Carbidopa Intestinal Gel Working Group [.., Calandra-Buonaura, Giovanna, Cortelli, Pietro, and ]

Subjects
Male, 0301 basic medicine, Pediatrics, Neurology, Parkinson's disease, Longitudinal Studie, Pharmacology, Antiparkinson Agents, Levodopa, 0302 clinical medicine, Retrospective Studie, Weight loss, Drug Combination, levodopa-carbidopa intestinal gel infusion, neuropathy, parkinson's disease, withdrawal, Longitudinal Studies, Gel, Carbidopa, Parkinson Disease, Health Survey, Intestine, Substance Withdrawal Syndrome, Intestines, Drug Combinations, Italy, Antiparkinson Agent, Withdrawal, Disease Progression, Female, Settore MED/26 - Neurologia, medicine.symptom, Human, medicine.drug, medicine.medical_specialty, Levodopa-carbidopa intestinal gel infusion, Neuropathy, Geriatrics and Gerontology, Neurology (clinical), 03 medical and health sciences, medicine, Humans, Adverse effect, Retrospective Studies, business.industry, Retrospective cohort study, Gels, Health Surveys, medicine.disease, Comorbidity, Discontinuation, 030104 developmental biology, business, 030217 neurology & neurosurgery
Abstract

Objectives To report the results of a national survey aimed at quantifying the current level of diffusion of Levodopa/carbidopa intestinal gel (LCIG) in Italy. Methods Sixty Parkinson's Disease (PD) specialists in Italy were invited to complete a survey covering issues on clinical and practical aspects of LCIG therapy. Results Clinical features of 905 patients were collected retrospectively. The majority of centres reported the use of a multidisciplinary team, biochemistry testing, neurophysiological and neuropsychological tests before and after treatment, in addition to caregivers' training and patient's follow as outpatients. Most centres (60%) used internal guidelines for patient selection. The overall rate of adverse events was 55.1%. Weight loss, chronic polyneuropathy and stoma infection were the most frequently reported. 40% of centres used replacement therapy with Vitamin B12 and Folic acid from the start of LCIG and continued this for the duration of treatment. The rate of discontinuation was of 25.7% overall, with 9.5% of cases occurring in the first year. The main causes of withdrawal were device-related complications, disease progression (comorbidity, severe dementia) and caregiver and/or patient dissatisfaction. Conclusions In Italy LCIG infusion is managed in a uniform manner at a clinical, practical and organizational level even though the selection criteria are not standardized through the country. The high percentage of patients remaining on treatment in the short- and long-term follow-up confirms effectiveness of treatment, careful follow-up, and appropriate patient and caregivers training.

Published
2017

3. 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

4. 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

5. The PRIAMO study: A multicenter assessment of nonmotor symptoms and their impact on quality of life in Parkinson's disease

Author

Barone P., Antonini A., Colosimo C., Marconi R., Morgante L., Avarello T. P., Bottacchi E., Cannas A., Ceravolo G., Ceravolo R., Cicarelli G., Gaglio R. M., Giglia R. M., Iemolo F., Manfredi M., Meco G., Nicoletti A., Pederzoli M., Petrone A., Pisani A., Pontieri F. E., Quatrale R., Ramat S., Scala R., Volpe G., Zappulla S., Bentivoglio A. R., Stocchi F., Trianni G., Dotto P. D., PRIAMO study group, Martinelli P., Barone, Paolo, Antonini, A, Colosimo, C, Marconi, R, Morgante, L, Avarello, Tp, Bottacchi, E, Cannas, A, Ceravolo, G, Ceravolo, R, Cicarelli, G, Gaglio, Rm, Giglia, Rm, 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, Dotto, Pd, PRIAMO study, g. r. o. u. p., Barone P., Antonini A., Colosimo C., Marconi R., Morgante L., Avarello T.P., Bottacchi E., Cannas A., Ceravolo G., Ceravolo R., Cicarelli G., Gaglio R.M., Giglia R.M., Iemolo F., Manfredi M., Meco G., Nicoletti A., Pederzoli M., Petrone A., Pisani A., Pontieri F.E., Quatrale R., Ramat S., Scala R., Volpe G., Zappulla S., Bentivoglio A.R., Stocchi F., Trianni G., Dotto P.D., PRIAMO study group [.., Martinelli P., and ]

Subjects
Male, Pediatrics, Parkinson's disease, Nonmotor symptoms, Gastrointestinal Diseases, Anxiety, Antiparkinson Agents, Olfaction Disorders, Cognition, Quality of life, Apathy, complications/drug therapy/psychology, Depression (differential diagnoses), Fatigue, Depression, Parkinson Disease, Middle Aged, Psychiatric symptoms, Aged, Cognition Disorders, Female, Humans, Italy, Pain, Sleep Disorders, Intrinsic, Urination Disorders, Quality of Life, Neurology (clinical), Neurology, Settore MED/26 - NEUROLOGIA, epidemiology, medicine.symptom, Psychology, epidemiology/etiology/psychology, medicine.medical_specialty, Drooling, Aged, Antiparkinson Agents, therapeutic use, Anxiety, epidemiology/etiology/psychology, Cognition Disorders, epidemiology/etiology/psychology, Depression, epidemiology/etiology/psychology, Fatigue, epidemiology/etiology/psychology, Female, Gastrointestinal Diseases, epidemiology/etiology/psychology, Humans, Italy, epidemiology, Male, Middle Aged, Olfaction Disorders, epidemiology/etiology/psychology, Pain, epidemiology/etiology/psychology, Parkinson Disease, complications/drug therapy/psychology, Quality of Life, Sleep Disorders, Intrinsic, epidemiology/etiology/psychology, Urination Disorders, medicine, Nocturia, Urination disorder, medicine.disease, therapeutic use, Physical therapy, MULTICENTER STUDY, PARKINSON, Sleep Disorders
Abstract

We performed a multicenter survey using a semistructured interview in 1,072 consecutive patients with Parkinson's disease (PD) enrolled during 12 months in 55 Italian centers to assess the prevalence of nonmotor symptoms (NMSs), their association with cognitive impairment, and the impact on patients' quality of life (QoL). We found that 98.6% of patients with PD reported the presence of NMSs. The most common were as follows: fatigue (58%), anxiety (56%), leg pain (38%), insomnia (37%), urgency and nocturia (35%), drooling of saliva and difficulties in maintaining concentration (31%). The mean number of NMS per patient was 7.8 (range, 0-32). NMS in the psychiatric domain were the most frequent (67%). Frequency of NMS increased along with the disease duration and severity. Patients with cognitive impairment reported more frequently apathy, attention/memory deficit, and psychiatric symptoms. Apathy was the symptom associated with worse PDQ-39 score but also presence of fatigue, attention/memory, and psychiatric symptoms had a negative impact on QoL. These findings further support a key role for NMS in the clinical frame of PD and the need to address them specifically in clinical trials using dedicated scales.

Published
2009

6. 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

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. Novel parkin mutations detected in patients with early-onset Parkinson's disease

Author

Bertoli Avella A. M., Giroud Benitez J. L., Akyol A., Barbosa E., Schaap O., van der Linde H. C., Martignoni E., Lopiano L., Lamberti P., Fincati E., Antonini A., Stocchi F., Squitieri F., Marini P., Abbruzzese G., Fabbrini G., Marconi R., Dalla Libera A., Trianni G., Guidi M., De Gaetano A., Boff Maegawa G., De Leo A., Gallai V., de Rosa G., Vanacore N., Meco G., Van Duijn C. M., Oostra B. A., Heutink P., Bonifati V., Italian Parkinson Genetics Network, MONTAGNA, PASQUALE, Biological Psychology, Clinical Genetics, Epidemiology, Bertoli-Avella A.M., Giroud-Benitez J.L., Akyol A., Barbosa E., Schaap O., van der Linde H.C., Martignoni E., Lopiano L., Lamberti P., Fincati E., Antonini A., Stocchi F., Montagna P., Squitieri F., Marini P., Abbruzzese G., Fabbrini G., Marconi R., Dalla Libera A., Trianni G., Guidi M., De Gaetano A., Boff Maegawa G., De Leo A., Gallai V., de Rosa G., Vanacore N., Meco G., Van Duijn C.M., Oostra B.A., Heutink P., Bonifati V., and Italian Parkinson Genetics Network.

Subjects
Adult, Male, Adolescent, Genotype, Cost-Benefit Analysis, Ubiquitin-Protein Ligases, Protein Deglycase DJ-1, medicine.disease_cause, Polymerase Chain Reaction, Parkin, Exon, SDG 3 - Good Health and Well-being, medicine, Humans, Mass Screening, Point Mutation, Allele, Age of Onset, Mass screening, Aged, Gene Library, Genetics, Oncogene Proteins, Mutation, business.industry, Point mutation, Intracellular Signaling Peptides and Proteins, Parkinson Disease, Exons, Middle Aged, nervous system diseases, Phenotype, Neurology, Female, Neurology (clinical), Age of onset, business, Protein Kinases
Abstract

A multiethnic series of patients with early-onset Parkinson's disease (EOP) was studied to assess the frequency and nature of parkin/PARK2 gene mutations and to investigate phenotype-genotype relationships. Forty-six EOP probands with an onset age of G, and exon 8-9-10 deletion. Homozygous mutations, two heterozygous mutations, and a single heterozygous mutation were found in 8, 6, and 1 patient, respectively. Heterozygous exon deletions represented 28% of the mutant alleles. The patients with parkin mutations showed significantly earlier onset, longer disease duration, more frequently symmetric onset, and slower disease progression than the patients without mutations, in agreement with previous studies. This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work-up of EOP. © 2004 Movement Disorder Society.

Published
2004
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9. The PRIAMO study: background, methods and recruitment

Author

Antonini, A, Colosimo, C, Marconi, R, Morgante, L, Barone, P, Priamo, Sg, Abbruzzese, Giovanni, Abrignani, M, Agnetti, V, Antonini Pezzoli, A, Avarello, T, Baratti, M, Bartolomei, L, Bentivoglio, A, Bottacchi, E, Bracco, F, Cannas, A, Capus, L, Ceravolo, M, Ceravolo, R, Ciacci, G, Cicarelli, G, Consoli, D, Cossu, G, Cuomo, T, De Pandis, M, Del Dotto, P, Gaglio, R, Giaccaglini, E, Giglia, L, Guidi, M, Iemolo, F, Lopiano, L, Luciano, R, Manfredi, M, Marini, P, Martinelli, P, Mauro, A, Meco, G, Mucchiut, M, Nastasi, G, Nordera, G, Pacchetti, C, Pederzoli, M, Pennisi, F, Perini, M, Petrone, A, Pontieri, F, Pramstaller, P, Quatrale, R, Scaglioni, A, Scala, R, Simone, P, Soliveri, P, Stanzione, P, Stocchi, F, Trianni, G, Troianiello, B, Volpe, G, Zàppia, M, Zappulla, S., Antonini, A, Colosimo, C, Marconi, R, Morgante, L, Barone, Paolo, PRIAMO study, g. r. o. u. p., Antonino A., Colosimo C., Marconi R., Morgante L., Barone P., on behalf of the PRIAMO study group [.., Martinelli P., and ]

Subjects
Male, Sleep Wake Disorders, medicine.medical_specialty, Pediatrics, Cross-sectional study, prevalence, Neurocognitive Disorders, Comorbidity, Dermatology, epidemiology, incidence, parkinsonism, Cohort Studies, Parkinsonian Disorders, Quality of life, Epidemiology, medicine, Humans, Dementia, Longitudinal Studies, Aged, business.industry, MULTICENTRIC STUDY, Patient Selection, Incidence (epidemiology), Parkinsonism, General Medicine, medicine.disease, Epidemiologic Studies, Psychiatry and Mental health, Cross-Sectional Studies, Autonomic Nervous System Diseases, Italy, Epidemiologic Research Design, MOTOR SYMPTOMS, Quality of Life, Physical therapy, Female, Neurology (clinical), PARKINSON, business, Cohort study
Abstract

PRIAMO (PaRkinson And non Motor symptOms) is an epidemiology study aimed to assess the prevalence and incidence of non-motor symptoms (NMS) in patients with parkinsonism. PRIAMO consists of two phases: (1) a transversal assessment of the prevalence of NMS and (2) a longitudinal observation with two follow-up visits at 12 and 24 months to establish the incidence of NMS. A secondary aim of PRIAMO is to study the relationship between NMS and quality of life. Patients with parkinsonism have been evaluated in 59 Neurology Centres widely distributed throughout Italy. PRIAMO has analysed a total of 1307 patients (out of 1325 initially enrolled). We expect that PRIAMO will substantially help to quantify the burden of NMS in patients with parkinsonism.

Published
2008

10. How much phenotypic variation can be attributed to parkin genotype?

Author

Lohmann, E., Periquet, M., Bonifati, V., Wood, N.W., Michele, G. de, Bonnet, A.M., Fraix, V., Brousolle, E., Horstink, M.W.I.M., Vidailhet, M., Verpillat, P., Gasser, T., Nicholl, D., Teive, H., Raskin, S., Rascol, O., Destee, A., Ruberg, M., Gasparini, F., Meco, G., Agid, Y., Durr, A., and Brice, A.

Subjects
Adult, Aged, 80 and over, Male, Heterozygote, Adolescent, Genotype, Ubiquitin-Protein Ligases, Mutation, Missense, Genetic Variation, Parkinson Disease, Exons, Middle Aged, nervous system diseases, Antiparkinson Agents, Levodopa, Phenotype, Cognitive neurosciences [UMCN 3.2], Mutation, Disease Progression, Humans, Female, Age of Onset, Aged
Abstract

Item does not contain fulltext To establish phenotype-genotype correlations in early-onset parkinsonism, we have compared the phenotype of a large series of 146 patients with and 250 patients without parkin mutations. Although no single sign distinguished the groups, patients with mutations had significantly earlier and more symmetrical onset, dystonia more often at onset and hyperreflexia, slower progression of the disease, and a tendency toward a greater response to levodopa despite lower doses. After forward stepwise multiple logistic regression analysis, dystonia at onset and brisk reflexes were not longer significantly different but were correlated with age at onset rather than the presence of the parkin mutation. Age at onset in carriers of parkin mutations varied as did the rate of progression of the disease: the younger the age at onset the slower the evolution. The genotype influenced the phenotype: carriers of at least one missense mutation had a higher United Parkinson's Disease Rating Scale motor score than those carrying two truncating mutations. The localization of the mutations was also important because missense mutations in functional domains of parkin resulted in earlier onset. Patients with a single heterozygous mutation had significantly later and more asymmetrical onset and more frequent levodopa-induced fluctuations and dystonia than patients with two mutations.

Published
2003

11. Pramipexole in Parkinson's disease. A short-term study using the combined levodopa-dopamine agonist test

Author

Fabbrini G, Barbanti P, Aurilia C, Caterina Pauletti, and Meco G

Subjects
Male, Receptors, Dopamine D2, Movement, Receptors, Dopamine D3, Parkinson Disease, Antiparkinson Agents, Levodopa, Benserazide, Thiazoles, Pramipexole, Dopamine Agonists, Humans, Drug Therapy, Combination, Female, Benzothiazoles, dopamine agonists, levodopa, parkinson's disease, pramipexole, Aged
Abstract

The aim of our study was to investigate the efficacy of pramipexole in advanced parkinsonian patients by means of an acute stimulation test. We studied the motor effects of pramipexole in fluctuating parkinsonian patients by comparing the response to acute levodopa with the response to levodopa + pramipexole. The adjunct of pramipexole to levodopa increased the time spent on from 136 +/- 22.3 to 186 +/- 20.6 minutes (p0.01), while it did not change the latency to on, the magnitude of the motor improvement, or the duration and severity of dyskinesias. The main effect of pramipexole in fluctuating parkinsonian patients is an increased duration of the on phase.

Published
2003

12. An appraisal of the problem of dementia in Parkinson's disease

Author

Agnoli, A., Ruggieri, S., Meco, G., Casacchia, M., Denaro, A., Conti, L., Bedini, L., Fabrizio Stocchi, Fioravanti, M., and Franzese, A.

Subjects
Male, Memory Disorders, Humans, Dementia, Female, Parkinson Disease, Middle Aged, Aged
Published
1984

13. 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

14. A Double-Blind, Delayed-Start Trial of Rasagiline in Parkinson's Disease

Author

Olanow, Cw, Rascol, O, Hauser, R, Feigin, Pd, Jankovic, J, Lang, A, Langston, W, Melamed, E, Poewe, W, Stocchi, F, Tolosa, E, ADAGIO STUDY INVESTIGATORS, Collaborators, Bueri, J, Garretto, N, Gershanik, O, Giannaula, R, Micheli, F, Wolf, E, Guttman, M, Hobson, D, Jog, M, King, D, Mendis, T, Miyasaki, J, Panisset, M, Pourcher, E, Rajput, A, Ranawaya, R, Tsui, J, Cesaro, P, Damier, P, Destee, A, Durif, F, Slaoui, T, Tison, F, Viallet, F, Deuschl, G, Gasser, T, Ludolph, A, Oehlwein, C, Przuntek, H, Reifschneider, G, Schnitzler, A, Trenkwalder, C, Bokor, M, Katona, A, Lajtos, J, Nikl, J, Takats, A, Valikovics, A, Badarny, S, Djaldetti, R, Giladi, N, Hassin, S, Rabey, Jm, Reches, A, Schwartz, M, Wirguin, I, Albanese, A, Bentivoglio, A, Bonuccelli, U, Calzetti, S, Comi, G, Curatola, L, Ferrarese, C, Lamberti, P, Marconi, R, Martignoni, E, Meco, Giuseppe, Ruggieri, Stefano, Bomhof, Ma, Hovestadt, A, Krul, Jm, Leenders, Kl, Cunha, L, Ferreira, J, Bajenaru, Oa, Carciumaru, N, Bulboaca, Ac, Pascu, I, Simu, M, Calopa, M, FERNÁNDEZ GARCÍA JM, Kulisevsky, J, Linazasoro, C, Miquel, F, Posada, Ij, Martí, Mj, Burn, D, Macmahon, D, Barker, R, Allen, N, Barbour, P, Bertoni, J, Bharucha, K, Bose, S, Drasby, E, Elble, R, Elmer, L, Evans, B, Factor, S, Fernandez, H, Friedman, J, Hull, K, Golbe, L, Goudreau, J, Guttuso, T, Hassan, M, Hermanowicz, N, Houser, M, Hurtig, H, Isaacson, S, Jennings, D, Kompoliti, A, Morgan, J, Murphy, J, Nausieda, P, Pahwa, R, Parashos, S, O'Suilleabhain, P, Racette, B, Reich, S, Roberts, J, Rothstein, T, Sahay, A, SAINT HILAIRE, M, Schiess, M, Scott, B, Shahed, J, Simuni, T, Singer, C, Smith, R, Struck, L, Sutton, J, Swope, D, Tagliati, M, Tetrud, J, Togasaki, D, Watts, R., Olanow, C, Rascol, O, Hauser, R, Feigin, P, Jankovic, J, Lang, A, Langston, W, Melamed, E, Poewe, W, Stocchi, F, Tolosa, E, ADAGIO Study, I, Bueri, J, Garretto, N, Gershanik, O, Giannaula, R, Micheli, F, Wolf, E, Guttman, M, Hobson, D, Jog, M, King, D, Mendis, T, Miyasaki, J, Panisset, M, Pourcher, E, Rajput, A, Ranawaya, R, Tsui, J, Cesaro, P, Damier, P, Destee, A, Durif, F, Slaoui, T, Tison, F, Viallet, F, Deuschl, G, Gasser, T, Ludolph, A, Oehlwein, C, Przuntek, H, Reifschneider, G, Schnitzler, A, Trenkwalder, C, Bokor, M, Katona, A, Lajtos, J, Nikl, J, Takats, A, Valikovics, A, Badarny, S, Djaldetti, R, Giladi, N, Hassin, S, Rabey, J, Reches, A, Schwartz, M, Wirguin, I, Albanese, A, Bentivoglio, A, Bonuccelli, U, Calzetti, S, Comi, G, Curatola, L, Ferrarese, C, Lamberti, P, Marconi, R, Martignoni, E, Meco, G, Ruggieri, S, Bomhof, M, Hovestadt, A, Krul, J, Leenders, K, Cunha, L, Ferreira, J, Bajenaru, O, Carciumaru, N, Bulboaca, A, Pascu, I, Simu, M, Calopa, M, Fernández García, J, Kulisevsky, J, Linazasoro, C, Miquel, F, Posada, I, Martí, M, Burn, D, Macmahon, D, Barker, R, Allen, N, Barbour, P, Bertoni, J, Bharucha, K, Bose, S, Drasby, E, Elble, R, Elmer, L, Evans, B, Factor, S, Fernandez, H, Friedman, J, Hull, K, Golbe, L, Goudreau, J, Guttuso, T, Hassan, M, Hermanowicz, N, Houser, M, Hurtig, H, Isaacson, S, Jennings, D, Kompoliti, A, Morgan, J, Murphy, J, Nausieda, P, Pahwa, R, Parashos, S, O'Suilleabhain, P, Racette, B, Reich, S, Roberts, J, Rothstein, T, Sahay, A, Saint Hilaire, M, Schiess, M, Scott, B, Shahed, J, Simuni, T, Singer, C, Smith, R, Struck, L, Sutton, J, Swope, D, Tagliati, M, Tetrud, J, Togasaki, D, and Watts, R

Subjects
Adult, Male, medicine.medical_specialty, Monoamine Oxidase Inhibitors, Parkinson's disease, Neuroprotective Agent, Severe disease, Placebo, Severity of Illness Index, Placebo group, Drug Administration Schedule, Central nervous system disease, Double blind, chemistry.chemical_compound, Double-Blind Method, Severity of illness, Humans, Rasagiline, Medicine, Monoamine Oxidase Inhibitor, Aged, Dose-Response Relationship, Drug, business.industry, Indan, Parkinson Disease, General Medicine, Middle Aged, medicine.disease, Surgery, Neuroprotective Agents, chemistry, Research Design, Anesthesia, Indans, Female, business, Human
Abstract

BACKGROUND: A therapy that slows disease progression is the major unmet need in Parkinson's disease. METHODS: In this double-blind trial, we examined the possibility that rasagiline has disease-modifying effects in Parkinson's disease. A total of 1176 subjects with untreated Parkinson's disease were randomly assigned to receive rasagiline (at a dose of either 1 mg or 2 mg per day) for 72 weeks (the early-start group) or placebo for 36 weeks followed by rasagiline (at a dose of either 1 mg or 2 mg per day) for 36 weeks (the delayed-start group). To determine a positive result with either dose, the early-start treatment group had to meet each of three hierarchical end points of the primary analysis based on the Unified Parkinson's Disease Rating Scale (UPDRS, a 176-point scale, with higher numbers indicating more severe disease): superiority to placebo in the rate of change in the UPDRS score between weeks 12 and 36, superiority to delayed-start treatment in the change in the score between baseline and week 72, and noninferiority to delayed-start treatment in the rate of change in the score between weeks 48 and 72. RESULTS: Early-start treatment with rasagiline at a dose of 1 mg per day met all end points in the primary analysis: a smaller mean (+/-SE) increase (rate of worsening) in the UPDRS score between weeks 12 and 36 (0.09+/-0.02 points per week in the early-start group vs. 0.14+/-0.01 points per week in the placebo group, P=0.01), less worsening in the score between baseline and week 72 (2.82+/-0.53 points in the early-start group vs. 4.52+/-0.56 points in the delayed-start group, P=0.02), and noninferiority between the two groups with respect to the rate of change in the UPDRS score between weeks 48 and 72 (0.085+/-0.02 points per week in the early-start group vs. 0.085+/-0.02 points per week in the delayed-start group, P

Published
2009
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15. A randomized clinical trial to evaluate the effects of rasagiline on depressive symptoms in non-demented Parkinson's disease patients

Author

Ubaldo Bonuccelli, Paolo Barone, Leonardo Lopiano, Paolo Stanzione, Marco Onofrj, Giovanni Abbruzzese, Giovanni Pezzoli, Michele Tinazzi, Angelo Antonini, Giovanni Cossu, Giuseppe Meco, Gabriella Santangelo, Letterio Morgante, Barone, P., Santangelo, G., Morgante, L., Onofrj, M., Meco, G., Abbruzzese, G., Bonuccelli, U., Cossu, G., Pezzoli, G., Stanzione, P., Lopiano, L., Antonini, A., and Tinazzi, M.

Subjects
Male, cognition, medicine.medical_specialty, Parkinson's disease, Neuroprotective Agent, Placebo, law.invention, chemistry.chemical_compound, Quality of life, Randomized controlled trial, Double-Blind Method, Rating scale, law, Internal medicine, Medicine, Humans, Apathy, Cognition, Depression, Rasagiline, Aged, Female, Indans, Middle Aged, Neuroprotective Agents, Parkinson Disease, Treatment Outcome, Neurology (clinical), Neurology, cognition,depression,Parkinson's disease,rasagiline, rasagiline, business.industry, Indan, Beck Depression Inventory, Original Articles, medicine.disease, chemistry, Parkinson’s disease, medicine.symptom, business, Clinical psychology, Human
Abstract

Background and purpose Depressed mood is a common psychiatric problem associated with Parkinson's disease (PD), and studies have suggested a benefit of rasagiline treatment. Methods ACCORDO (see the Appendix) was a 12-week, double-blind, placebo-controlled trial to evaluate the effects of rasagiline 1 mg/day on depressive symptoms and cognition in non-demented PD patients with depressive symptoms. The primary efficacy variable was the change from baseline to week 12 in depressive symptoms measured by the Beck Depression Inventory (BDI-IA) total score. Secondary outcomes included change from baseline to week 12 in cognitive function as assessed by a comprehensive neuropsychological battery; Parkinson's disease quality of life questionnaire (PDQ-39) scores; Apathy Scale scores; and Unified Parkinson's Disease Rating Scale (UPDRS) subscores. Results One hundred and twenty-three patients were randomized. At week 12 there was no significant difference between groups for the reduction in total BDI-IA score (primary efficacy variable). However, analysis at week 4 did show a significant difference in favour of rasagiline (marginal means difference ± SE: rasagiline −5.46 ± 0.73 vs. placebo −3.22 ± 0.67; P = 0.026). There were no significant differences between groups on any cognitive test. Rasagiline significantly improved UPDRS Parts I (P = 0.03) and II (P = 0.003) scores versus placebo at week 12. Post hoc analyses showed the statistical superiority of rasagiline versus placebo in the UPDRS Part I depression item (P = 0.04) and PDQ-39 mobility (P = 0.007) and cognition domains (P = 0.026). Conclusions Treatment with rasagiline did not have significant effects versus placebo on depressive symptoms or cognition in PD patients with moderate depressive symptoms. Although limited by lack of correction for multiple comparisons, post hoc analyses signalled some improvement in patient-rated cognitive and depression outcomes.

Published
2014

16. The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson’s disease

Author

Giuseppe De Michele, John Hardy, Ben A. Oostra, Alexandra Durr, B. Sanjay Harhangi, Benjamin Bereznai, Monique M.B. Breteler, Sarah Lincoln, J. R. Vaughan, Matthew J. Farrer, Thomas Gasser, Vincenzo Bonifati, Alexis Brice, Giuseppe Meco, Maria Martinez, Nicholas W. Wood, Harhangi, B, Farrer, Mj, Lincoln, S, Bonifati, V, Meco, G, DE MICHELE, Giuseppe, Brice, A, Drr, A, Martinez, M, Gasser, T, Bereznai, B, Vaughan, Jr, Wood, Nw, Oostra, Ba, Breteler, Mmb, THE ITALIAN PARKINSON GENETIC STUDY GROUP AND THE EUROPEAN CONSORTIUM ON GENETIC SUSCEPTIBILITY TO PARKINSONS, Diseas, Epidemiology, and Clinical Genetics

Subjects
Male, Candidate gene, Nerve Tissue Proteins, Biology, medicine.disease_cause, Polymerase Chain Reaction, White People, Nuclear Family, chemistry.chemical_compound, Germany, medicine, Humans, Point Mutation, Coding region, Gene, Aged, DNA Primers, Netherlands, Alpha-synuclein, Genetics, Mutation, General Neuroscience, Parkinson Disease, Exons, Middle Aged, Ubiquitin carboxy-terminal hydrolase L1, Major gene, Amino Acid Substitution, Italy, chemistry, Mutation testing, Female, France, Thiolester Hydrolases, Ubiquitin Thiolesterase
Abstract

Recently an Ile93Met mutation in the ubiquitin-carboxy-terminal-hydrolase-L1 gene (UCH-L1) has been described in a German family with Parkinson's disease (PD). The authors showed that this mutation is responsible for an impaired proteolytic activity of the UCH-L1 protein and may lead to an abnormal aggregation of proteins in the brain. In order to determine the importance of this or any other mutation in the coding region of the UCH-L1 gene in PD, we performed mutation analysis on Caucasian families with at least two affected sibs. We did not detect any mutations in the UCH-L1 gene, however, we cannot exclude mutations in the regulatory or intronic regions of the UCH-L1 gene since these regions were not sequenced. We conclude that the UCH-L1 gene is not a major gene responsible for familial PD.

Published
1999

17. Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family

Author

Alberto Pierallini, Rosalba Carrozzo, Giorgio Casari, Vincenzo Bonifati, Filippo M. Santorelli, Giuseppe Amabile, A. Patrignani, Nicoletta Locuratolo, Giuseppe Meco, Nicola Vanacore, Giulia d'Amati, Maria Damiano, D. Fortini, Carlo Casali, Francesco Pierelli, Giovanni Fabbrini, Casali, C, Bonifati, V, Santorelli, Fm, Casari, GIORGIO NEVIO, Fortini, D, Patrignani, A, Fabbrini, G, Carrozzo, R, D'Amati, G, Locuratolo, N, Vanacore, N, Damiano, M, Pierallini, A, Pierelli, F, Amabile, Ga, and Meco, G.

Subjects
Adult, Male, Mitochondrial DNA, Respiratory chain, Locus (genetics), Biology, Mitochondrion, DNA, Mitochondrial, Ophthalmoparesis, Mitochondrial myopathy, medicine, Humans, Aged, Genetics, Aged, 80 and over, Multiple mitochondrial DNA deletions, Parkinsonism, Mitochondrial Myopathies, Parkinson Disease, Middle Aged, medicine.disease, Pedigree, Jews, Female, Neurology (clinical), medicine.symptom, Gene Deletion
Abstract

The authors describe a family of Sephardic Jews with progressive external ophthalmoparesis, skeletal muscle weakness, and parkinsonism. Autosomal recessive inheritance was suggested by many consanguineous marriages, although a dominant disorder could not be excluded. No linkage to known progressive external ophthalmoparesis locus was found. The presence of cytochrome c oxidase-negative ragged-red fibers, biochemically reduced respiratory chain complexes, and multiple mitochondrial DNA deletions in muscle biopsies from four patients suggested a new mitochondrial disorder of intergenomic communication.

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