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2. Pain and motor complications in Parkinson's disease

Author

Tinazzi, M., Del Vesco, C., Fincati, E., Ottaviani, S., Smania, N., Moretto, G., and Fiaschi, A.

Subjects
Parkinson's disease -- Complications and side effects, Parkinson's disease -- Research, Parkinson's disease -- Physiological aspects, Pain -- Causes of, Pain -- Analysis, Motor ability -- Analysis, Health, Psychology and mental health
Published
2006

3. A multicenter Italian randomised study on early treatment of Parkinson disease: comparison of 1-dopa, 1-deprenyl and dopaminoagonists. Study design and short term results

Author

Caraceni T., Musicco M., Gasparini M., Beghi E., Scigliano G., Carella F., Cossutta E., Chiaro C., Lovicu G., Giminiani G., Currado I., Solari, A., Nicolosi A., Agnoli A., Nappi G., Giuliani G., Angeleri A., Moro G., Franciosi A., De Mari M., Lamberti P., Huber R., Coppola G., Trianni G., Onofri M., Curatola L., Paolino E., Casetta I., Scaglioni P., Caffarra P., Marini P., Vanni P., Genitrini S., Sterzi R., Ferrarini M., Bassi P., Contri P., Comi G. C., Comola M., Campanella G., De Michele G., Pacchetti C., Martignoni E., Piccirilli M., Finali G., Massetani R., Galli R., Albanese A., Bentivoglio A., Scoppetta C., Peppe A., Stanzione P., Semprini R., Rossi F., Castellano A., Marconi R., Fincati E., Tomelleri G., Nardelli E., Nordera G., Iemolo F., D'Asta G., Lorizio A., Salsa F., Freschi R., Meregalli S., Bandinelli S., Gangemi S., Capus L., Piola P., Bino G., Achille P., Pederzoli M., Lenzi G. L., and The Italian Parkinson Study Group

Published
1992
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4. 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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5. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes

Author

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

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

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

Published
2005

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

Author

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

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

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

Published
2009

8. 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

9. 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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11. 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, 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, Italian Parkinson Genetics Network, Oostra, Ba, CollaboratorsBonifati V, Bonifati V., Giraudo, S, Tassorelli, C, Pacchetti, C, Nappi, G, Riboldazzi, G, Bono, GIORGIO GIOVANNI, Raudino, F, Manfredi, M, Bonizzato, A, Ferracci, C, Marchese, R, Montagna, P, Massaro, F, Minardi, C, Rasi, F, Vanacore, N, Berardelli, A, Vacca, L, De Pandis, F, Dell'Aquila, C, Iliceto, G, Lamberti, P, Trianni, G, Mauro, A, De Gaetano, A, Rizzo, M, and Cossu, G.

Published
2009

14. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson's disease

Author

Alessio Di Fonzo, Chien, H., Socal, M., Giraudo, S., Tassorelli, C., Iliceto, G., Fabbrini, G., Marconi, R., Fincati, E., Abruzzese, G., Marini, P., Squitieri, F., Horstink, M. W. I. M., Montagna, P., Dalla Libera, A., Stocchi, F., Goldwurm, S., Ferreira, J., Meco, G., Martignoni, E., Lopiano, L., Jardim, L., Oostra, B. A., Barbosa, E., and Bonifati, V.

Published
2007

18. The prognosis and main prognostic indicators of Guillain-Barré syndrome. A multicentre prospective study of 297 patients. The Italian Guillain-Barré Study Group

Author

Beghi, E, Bono, A, Bogliun, G, Cornelio, F, Rizzuto, N, Tonali, P, Zerbi, D, Castelli, C, Ferrari, G, Marconi, M, Simone, P, Apollo, F, Amonisio, L, Crociani, P, Zarrelli, M, Anghen, Briani, C, Fincati, E, Affuso, R, Bottacchi, E, Lia, C, Carenini, L, Veratti, M, Guastella, G: Meineri, P, Grasso, E, Bargagli, G, Gresli, M, Santoro, P, Marzorati, L, Antozzi, C, Bellini, A, Gentilini, M, Lunazzi, C, Sorgato, P, Fasana, M, Pizza, V, Mignogna, MT, Lippi, G, Sabatelli, M, Gomitoni, A, CAVALETTI, GUIDO ANGELO, Beghi, E, Bono, A, Bogliun, G, Cornelio, F, Rizzuto, N, Tonali, P, Zerbi, D, Castelli, C, Ferrari, G, Marconi, M, Simone, P, Apollo, F, Amonisio, L, Crociani, P, Zarrelli, M, Anghen, B, Fincati, E, Affuso, R, Bottacchi, E, Lia, C, Carenini, L, Veratti, M, Guastella, G:, M, P, Grasso, E, Bargagli, G, Gresli, M, Santoro, P, Marzorati, L, Antozzi, C, Bellini, A, Gentilini, M, Lunazzi, C, Sorgato, P, Fasana, M, Pizza, V, Mignogna, M, Lippi, G, Sabatelli, M, Gomitoni, A, and Cavaletti, G

Subjects
Adult, Male, Prospective Studie, Adolescent, Gastroenteriti, Prognosi, Influenza, Human, Polyradiculoneuropathy, Female, Middle Aged, Respiratory Tract Infections, Human
Abstract

To assess the prognosis of the Guillain-Barré syndrome and identify the main prognostic indicators, 297 patients with Guillain-Barré syndrome recruited through a network of Italian centres were followed up for 24 months or until clinical recovery, whichever was earliest. For each patient the time to plateau, improvement, clinical recovery, or death was calculated, and prognostic indicators (age, sex, antecedent events, disability at admission and nadir, electrophysiological patterns) and treatments were noted. The mean duration of follow-up was 309 days. During this period, 212 patients (71%) recovered, 48 (16%) had residua and 33 (11%) died. The mean times to nadir, improvement and clinical recovery were 12, 28 and 200 days. Using life-tables and survival curves, the cumulative probability of achieving the plateau of symptoms was 73% by 1 week and 98% by 4 weeks. Improvement started during the first week in 36% of cases and within 4 weeks in 85%. The rates of clinical recovery at 1 and 4 weeks, 6, 12 and 24 months were 4, 24, 57, 70 and 82%, respectively. The chance of recovery was significantly affected by age, antecedent gastroenteritis, disability, electrophysiological signs of axonopathy, latency to nadir and duration of active disease. The main treatments did not seem to affect the chance of recovery

Published
1996

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

Author

Di Fonzo, A, Tassorelli, C, De Mari, M, Chien, Hf, Ferreira, J, Rohé, Cf, Riboldazzi, G, Antonini, A, Albani, G, Mauro, A, Marconi, R, Abbruzzese, G, Lopiano, L, Fincati, E, Guidi, M, Marini, P, Stocchi, F, Onofrj, M, Toni, V, Tinazzi, M, Fabbrini, G, Lamberti, P, Vanacore, N, Meco, G, Leitner, P, Uitti, Rj, Wszolek, Zk, Gasser, T, Simons, Ej, Breedveld, Gj, Goldwurm, S, Pezzoli, G, Sampaio, C, Barbosa, E, Martignoni, E, Oostra, Ba, Bonifati, V, Vancore, N, Fabrizio, E, Locuratolo, N, Martini, L, Scoppetta, C, Colosimo, C, Manfredi, Ma, Tavella, A, Bergamasco, B, Pacchetti, C, Nappi, G, Canesi, M, Calandrella, D, Brono, G, Manfredi, Mi, Raudino, F, Corengia, E, Bonizzato, A, Ferracci, C, Dalla Libera, A, Marchese, R, Montagna, P, Ramat, S, Massaro, F, Minardi, C, Rasi, F, Thomas, A, Vacca, L, De Pandis, F, Diroma, C, Iliceto, G, Trianni, G, De Gaetano, A, Rizzo, M, and Cossu, G.

Published
2006

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

Author

Bertoli-Avella, Am, Giroud-Benitez, Jl, Akyol, A, Barbosa, E, Schaap, O, van der Linde HC, 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 CM, Oostra, Ba, Heutink, P, Bonifati, V, Fabrizio, E, Locuratolo, N, Martini, L, Vacca, L, De Pandis, F, Colosimo, C, Manfredi, M, Tavella, A, Bergamasco, B, Tassorelli, C, Pacchetti, C, Nappi, G, Goldwurm, S, Pezzoli, G, Calandrella, D, Riboldazzi, G, Ferrari, G, Tarletti, R, Cantello, R, Marchese, R, Scaglione, C, Martinelli, P, Massaro, F, Minardi, C, Rasi, F, Lanari, A, Brustenghi, P, Cannella, M, de Mari, M, di Roma, C, Iliceto, G, Toni, V, Coppola, G, Mauro, A, Chien, Shf, Dutra, Ap, Nagahashi, Sk, Jardim, L, Rieder, C, Kiylioglu, N, Temocin, K, and Ulucan, H.

Published
2005

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

Author

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

Abstract

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

Published
2005

26. The prognosis and main prognostic indicators of Guillain-Barré syndrome: A multicentre prospective study of 297 patients

Author

Beghi, E, Bono, A, Bogliun, G, Cornelio, F, Rizzuto, N, Tonali, P, Zerbi, D, Castelli, C, Ferrari, G, Marconi, M, Simone, P, Apollo, F, Amonisio, L, Crociani, P, Zarrelli, M, Anghen, B, C, Fincati, E, Affuso, R, Bottacchi, E, Lia, C, Carenini, L, Veratti, M, Guastella, G:, M, P, Grasso, E, Bargagli, G, Gresli, M, Santoro, P, Marzorati, L, Antozzi, C, Bellini, A, Gentilini, M, Lunazzi, C, Sorgato, P, Fasana, M, Pizza, V, Mignogna, M, Lippi, G, Sabatelli, M, Gomitoni, A, Cavaletti, G, Anghen, Briani, G: Meineri, Mignogna, MT, CAVALETTI, GUIDO ANGELO, Beghi, E, Bono, A, Bogliun, G, Cornelio, F, Rizzuto, N, Tonali, P, Zerbi, D, Castelli, C, Ferrari, G, Marconi, M, Simone, P, Apollo, F, Amonisio, L, Crociani, P, Zarrelli, M, Anghen, B, C, Fincati, E, Affuso, R, Bottacchi, E, Lia, C, Carenini, L, Veratti, M, Guastella, G:, M, P, Grasso, E, Bargagli, G, Gresli, M, Santoro, P, Marzorati, L, Antozzi, C, Bellini, A, Gentilini, M, Lunazzi, C, Sorgato, P, Fasana, M, Pizza, V, Mignogna, M, Lippi, G, Sabatelli, M, Gomitoni, A, Cavaletti, G, Anghen, Briani, G: Meineri, Mignogna, MT, and CAVALETTI, GUIDO ANGELO

Abstract

To assess the prognosis of the Guillain-Barré syndrome and identify the main prognostic indicators, 297 patients with Guillain-Barré syndrome recruited through a network of Italian centres were followed up for 24 months or until clinical recovery, whichever was earliest. For each patient the time to plateau, improvement, clinical recovery, or death was calculated, and prognostic indicators (age, sex, antecedent events, disability at admission and nadir, electrophysiological patterns) and treatments were noted. The mean duration of follow-up was 309 days. During this period, 212 patients (71%) recovered, 48 (16%) had residua and 33 (11%) died. The mean times to nadir, improvement and clinical recovery were 12, 28 and 200 days. Using life-tables and survival curves, the cumulative probability of achieving the plateau of symptoms was 73% by 1 week and 98% by 4 weeks. Improvement started during the first week in 36% of cases and within 4 weeks in 85%. The rates of clinical recovery at 1 and 4 weeks, 6, 12 and 24 months were 4, 24, 57, 70 and 82%, respectively. The chance of recovery was significantly affected by age, antecedent gastroenteritis, disability, electrophysiological signs of axonopathy, latency to nadir and duration of active disease. The main treatments did not seem to affect the chance of recovery

Published
1996

27. HLA and myasthenia gravis in the elderly

Author

Marchini, C., primary, Riviera, A.P., additional, Rinaldi, A, additional, Miotti, V., additional, Benedetti, D., additional, Fincati, E., additional, Lovaste, M.G., additional, Musso, A.M., additional, and Ferrari, G., additional

Published
1994
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28. Comparative analysis of visual and semi-quantitative assessment of striatal [123I]FP-CIT-SPET binding in Parkinson's disease.

Author

Ottaviani, S., Tinazzi, M., Pasquin, I., Nothdurfter, W., Tomelleri, G., Fincati, E., Nordera, G., Moretto, G., Fiaschi, A., Smania, N., Giorgetti, P., and Antonini, A.

Subjects
COMPARATIVE studies, VISION disorders, PARKINSON'S disease, CLINICAL trials, NUCLEAR medicine, PUBLIC health research
Abstract

We used qualitative visual assessment and semiquantitative measures of striatal DAT binding using [123I]FP-CIT-SPET in 85 patients with Parkinson's disease (PD). We compared these two assessments and their correlation with PD clinical progression. SPET imaging was visually classified by a nuclear medicine physician as normal or abnormal pattern grade I, II and III, in relation to a different degree of radioligand reduction uptake. Nineteen patients presented abnormal grade I (group 1), 53 grade II (group 2) and 13 grade III (group 3). The UPDRS III motor score, the H-Y score, the rigidity and bradykinesia subscores were significantly different among the three groups. Post hoc analysis showed that all values of these clinical parameters were higher in group 3 than in 2 and 1. All clinical indices were also significantly higher in group 2 than in group 1. This means that groups 3 and 2 were clinically more severely affected. No significant differences among the 3 groups were observed for age or duration of disease. Values of the mean striatum uptake were also significantly different among the three groups. Post hoc analysis revealed significantly lower values of the mean striatum uptake in group 3 with respect to groups 2 and 1; values were also significantly lower in group 2 than in group 1. We conclude that our findings of good consistency between visual and semi-quantitative assessment may help simplify the evaluation of striatal DAT binding in PD in a clinical routine setting. [ABSTRACT FROM AUTHOR]

Published
2006
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29. ATP13A2missense mutations in juvenile parkinsonism and young onset Parkinson disease

Author

Di Fonzo, A, Chien, H F., Socal, M, Giraudo, S, Tassorelli, C, Iliceto, G, Fabbrini, G, Marconi, R, Fincati, E, Abbruzzese, G, Marini, P, Squitieri, F, Horstink, M W., Montagna, P, Libera, A Dalla, Stocchi, F, Goldwurm, S, Ferreira, J J., Meco, G, Martignoni, E, Lopiano, L, Jardim, L B., Oostra, B A., Barbosa, E R., and Bonifati, V

Abstract

To assess the prevalence, nature, and associated phenotypes of ATP13A2gene mutations among patients with juvenile parkinsonism (onset <21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD).

Published
2007
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31. Neuropatie immunitarie ed infiammatorie

Author

Rizzuto, Nicolo', Monaco, Salvatore, Simonati, Alessandro, Moretto, G., Salviati, Alessandro, Bonetti, Bruno, and Fincati, E.

Subjects
neuroimmunologia, neuropatia, neuropatologia
Published
1988

33. Axillary injection of botulinum A toxin in a patient with muscle cramps associated with severe axillary hyperhidrosis

Author

Filosto, M., Bertolasi, L., Fincati, E., Alberto Priori, Tomelleri, G., Chieregato, G., and Rizzuto, N.

Subjects
Injections, Intradermal, Cramps, Middle Aged, Axillary hyperhidrosis, primary focal hyperhidrosis, Neuromuscular Agents, Axilla, Humans, Hyperhidrosis, muscle cramps, Female, botulinum toxin, Botulinum Toxins, Type A, Botulinum toxin, Muscle Cramp
Abstract

Muscle cramps may be caused by fluid and salt loss induced by diffuse or focal hyperhidrosis. Recent reports have described the efficacy of botulinum, toxin in the treatment of primary focal hyperhidrosis. Botulinum toxin inhibits sweating by blocking exocytosis of acetylcholine from presynaptic cholinergic nerve terminals. We report the case of a patient who complained of frequent muscle cramps associated with unusually severe axillary hyperhidrosis. We used botulinum toxin to treat the excessive focal sweating presuming that it would also reduce the muscle cramps. A total dose of 200 MU of botulinum A toxin (Dysport) per axilla markedly reduced sweating and cramps. The beneficial effect started four days after the injection and it was still present five months later. Treatment was repeated in the sixth month with analogous results. No side-effects were observed and no compensatory sweating occurred.

34. SEVERITY OF MOTOR SYMPTOMS AND SITE OF PAIN IN PARKINSON'S DISEASE

Author

Macerollo, A., Defazio, G., Berardelli, A., Fabbrini, G., Martino, D., Fincati, E., Fiaschi, A., Moretto, G., Abbruzzese, G., Marchese, R., Bonuccelli, U., Del Dotto, P., Barone, P., Vivo, E., Albanese, A., Antonini, A., Canesi, M., Lopiano, L., Zibetti, M., Nappi, G., Martignoni, E., Lamberti, P., and Michele TINAZZI

35. The prognosis and main prognostic indicators of Guillain-Barre syndrome - A multicentre prospective study of 297 patients

Author

Beghi, E., Bono, A., Bogliun, G., Cornelio, F., Rizzuto, N., Tonali, P., Zerbi, D., Castelli, C., Ferrari, G., Marconi, N., Simone, P., Apollo, F., Amoruso, L., Crociani, P., Zarrelli, M., Angelini, C., Briani, C., Fincati, E., Affuso, R., Bottacchi, E., Lia, C., Carenini, L., Veratti, Am, Guastella, G., Canistra, U., Meineri, P., Grasso, E., Bargagli, G., Gresti, M., Cavaletti, G., Santoro, P., Marzorati, L., Carlo Antozzi, Bellini, A., Gentilini, M., Lunazzi, C., Sorgato, P., Fasanar, Am, Pizza, V., Mignogna, Mt, Sabatelli, M., Lippi, G., Gomitoni, A., and Lovaste, Mg

36. Cognitive dysfunction in myasthenia gravis

Author

Pampanin, M., primary, Fincati, E., additional, Tomelleri, G., additional, Benedetti, M.D., additional, Vio, M., additional, Zenari, A., additional, Montini, M., additional, Ragno, C., additional, and Riviera, A.P., additional

Published
1989
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37. HLA antigens and Myasthenia Gravis

Author

Fincati, E., primary, Tomelleri, G., additional, Benedetti, M.D., additional, Silvestri, L., additional, Ciaffoni, S., additional, Roata, C., additional, Ragno, C., additional, and Riviera, A.P., additional

Published
1989
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40. Pain as a nonmotor symptom of Parkinson disease: evidence from a case-control study

Author

Giovanni Fabbrini, Paolo Barone, Maurizio Zibetti, Giovanni Defazio, Giovanni Abbruzzese, Elisa De Vivo, Ubaldo Bonuccelli, Paolo Del Dotto, Davide Martino, Antonio Fiaschi, Leonardo Lopiano, Emilia Martignoni, Michele Tinazzi, Alberto Albanese, Giuseppe Moretto, Paolo Lamberti, Angelo Antonini, Giuseppe Nappi, E. Fincati, Roberta Marchese, Alfredo Berardelli, Margherita Canesi, Defazio, G, Berardelli, A, Fabbrini, G, Martino, D, Fincati, E, Fiaschi, A, Moretto, G, Abbruzzese, G, Marchese, R, Bonuccelli, U, Del Dotto, P, Barone, Paolo, De Vivo, E, Albanese, A, Antonini, A, Canesi, M, Lopiano, L, Zibetti, M, Nappi, G, Martignoni, E, Lamberti, P, and Tinazzi, M.

Subjects
Male, medicine.medical_specialty, Parkinson's disease, Disease, Central nervous system disease, Degenerative disease, Arts and Humanities (miscellaneous), Internal medicine, medicine, Humans, pain, Aged, business.industry, Parkinson Disease, symptoms, Case-control study, Odds ratio, Middle Aged, medicine.disease, Confidence interval, Case-Control Studies, Female, Motor Skills, Pain, Neuropathic pain, Physical therapy, Neurology (clinical), business
Abstract

Objective To determine whether pain is more frequent among people with Parkinson disease (PD) than among age-matched controls. Design Case-control study. Patients and Methods Logistic regression models taking into account type of pain, time between pain and PD onset, and possible confounders were used to compare 402 PD patients with 317 age-matched healthy control subjects. Results The overall frequency of pain was significantly greater in PD patients than in controls (281 [69.9%] vs 199 [62.8%]; P = .04), mainly because the healthy control group lacked dystonic pain. Conversely, the frequency of nondystonic pain was similar among PD patients and controls (267 [66.4%] vs 199 [62.8%]; P = .28). Nevertheless, we observed a significant association between PD and nondystonic pain, beginning after the onset of parkinsonian symptoms (odds ratio, 2.1; 95% confidence interval, 1.4-2.9). Cramping and central neuropathic pain were more frequent among PD patients than controls. About one-quarter of patients who experienced pain reported pain onset before starting antiparkinsonian therapy. Conclusion These data support the hypothesis that pain begins at clinical onset of PD or thereafter as a nonmotor feature of PD.

Published
2008

41. 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 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, Oostra BA, and Bonifati V

Subjects
Adult, Aged, Humans, Middle Aged, Mutation, Pedigree, Carrier Proteins genetics, Parkinson Disease genetics
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.

Published
2009
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42. Pain as a nonmotor symptom of Parkinson disease: evidence from a case-control study.

Author

Defazio G, Berardelli A, Fabbrini G, Martino D, Fincati E, Fiaschi A, Moretto G, Abbruzzese G, Marchese R, Bonuccelli U, Del Dotto P, Barone P, De Vivo E, Albanese A, Antonini A, Canesi M, Lopiano L, Zibetti M, Nappi G, Martignoni E, Lamberti P, and Tinazzi M

Subjects
Aged, Case-Control Studies, Female, Humans, Male, Middle Aged, Motor Skills physiology, Pain complications, Pain diagnosis, Parkinson Disease complications, Parkinson Disease diagnosis, Pain physiopathology, Parkinson Disease physiopathology
Abstract

Objective: To determine whether pain is more frequent among people with Parkinson disease (PD) than among age-matched controls., Design: Case-control study., Patients and Methods: Logistic regression models taking into account type of pain, time between pain and PD onset, and possible confounders were used to compare 402 PD patients with 317 age-matched healthy control subjects., Results: The overall frequency of pain was significantly greater in PD patients than in controls (281 [69.9%] vs 199 [62.8%]; P = .04), mainly because the healthy control group lacked dystonic pain. Conversely, the frequency of nondystonic pain was similar among PD patients and controls (267 [66.4%] vs 199 [62.8%]; P = .28). Nevertheless, we observed a significant association between PD and nondystonic pain, beginning after the onset of parkinsonian symptoms (odds ratio, 2.1; 95% confidence interval, 1.4-2.9). Cramping and central neuropathic pain were more frequent among PD patients than controls. About one-quarter of patients who experienced pain reported pain onset before starting antiparkinsonian therapy., Conclusion: These data support the hypothesis that pain begins at clinical onset of PD or thereafter as a nonmotor feature of PD.

Published
2008
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43. Abnormal processing of the nociceptive input in Parkinson's disease: a study with CO2 laser evoked potentials.

Author

Tinazzi M, Del Vesco C, Defazio G, Fincati E, Smania N, Moretto G, Fiaschi A, Le Pera D, and Valeriani M

Subjects
Aged, Female, Humans, Male, Middle Aged, Pain psychology, Parkinson Disease psychology, Reaction Time physiology, Evoked Potentials, Somatosensory physiology, Lasers, Gas adverse effects, Pain physiopathology, Pain Measurement methods, Parkinson Disease physiopathology
Abstract

Since a number of patients with Parkinson's Disease (PD) complain of painful sensations, we studied whether the central processing of nociceptive inputs is abnormal in PD. To test this hypothesis, we recorded scalp CO(2) laser evoked potentials (LEPs) to hand skin stimulation in 18 pain-free PD patients with unilateral bradykinetic-rigid syndrome (hemiparkinson) during the off state and in 18 healthy subjects. This technique allows us to explore non-invasively the functional status of some cerebral structures involved in nociceptive input processing. In both PD patients and control subjects, CO(2) laser stimulation gave rise to a main negative N2 potential followed by a positive P2 response at vertex peaking at a latency of about 200 and 300ms, respectively. These potentials are thought to originate from several brain structures devoted to nociceptive input processing, including the cingulate gyrus and insula. PD patients and normal subjects showed comparable N2 and P2 latencies, whereas the N2/P2 peak-to-peak amplitude was significantly lower in PD patients (regardless of the clinically affected body side) than in controls. LEPs were even recorded after acute L-dopa administration in 7 additional PD patients. L-dopa administration yielded no significant change in N2/P2 amplitude as compared to the off state. These results suggest an abnormal nociceptive input processing in pain-free PD patients which appears to be independent of clinical expression of parkinsonian motor signs and is not affected by dopaminergic stimulation.

Published
2008
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44. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

Author

Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER, and Bonifati V

Subjects
Adolescent, Adult, Age of Onset, Brain pathology, Brain physiopathology, Brazil epidemiology, Child, Cohort Studies, DNA Mutational Analysis, Diagnosis, Differential, Female, Genetic Testing, Genotype, Humans, Italy epidemiology, Male, Middle Aged, Parkinson Disease epidemiology, Parkinsonian Disorders epidemiology, Phenotype, Prevalence, Genetic Predisposition to Disease genetics, Mutation, Missense genetics, Parkinson Disease genetics, Parkinsonian Disorders genetics, Proton-Translocating ATPases genetics
Abstract

Objective: To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD)., Methods: 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., Results: 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., Conclusions: 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
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45. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

Author

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

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

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

Published
2006
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46. Axillary injection of botulinum A toxin in a patient with muscle cramps associated with severe axillary hyperhidrosis.

Author

Filosto M, Bertolasi L, Fincati E, Priori A, Tomelleri G, Chieregato G, and Rizzuto N

Subjects
Female, Humans, Hyperhidrosis complications, Injections, Intradermal, Middle Aged, Muscle Cramp etiology, Axilla, Botulinum Toxins, Type A administration & dosage, Botulinum Toxins, Type A therapeutic use, Hyperhidrosis drug therapy, Muscle Cramp drug therapy, Neuromuscular Agents administration & dosage, Neuromuscular Agents therapeutic use
Abstract

Muscle cramps may be caused by fluid and salt loss induced by diffuse or focal hyperhidrosis. Recent reports have described the efficacy of botulinum, toxin in the treatment of primary focal hyperhidrosis. Botulinum toxin inhibits sweating by blocking exocytosis of acetylcholine from presynaptic cholinergic nerve terminals. We report the case of a patient who complained of frequent muscle cramps associated with unusually severe axillary hyperhidrosis. We used botulinum toxin to treat the excessive focal sweating presuming that it would also reduce the muscle cramps. A total dose of 200 MU of botulinum A toxin (Dysport) per axilla markedly reduced sweating and cramps. The beneficial effect started four days after the injection and it was still present five months later. Treatment was repeated in the sixth month with analogous results. No side-effects were observed and no compensatory sweating occurred.

Published
2001

47. Botulinum toxin treatment of muscle cramps: a clinical and neurophysiological study.

Author

Bertolasi L, Priori A, Tomelleri G, Bongiovanni LG, Fincati E, Simonati A, De Grandis D, and Rizzuto N

Subjects
Adult, Aged, Electromyography, Female, Humans, Male, Middle Aged, Muscle Cramp physiopathology, Prognosis, Botulinum Toxins therapeutic use, Muscle Cramp drug therapy
Abstract

Botulinum toxin is now widely used in the treatment of several hyperkinetic movement disorders. To evaluate its efficacy in treating muscle cramping syndromes, we studied clinical and neurophysiological variables before and after botulinum toxin injections into calf muscles and small flexor muscles of the foot in patients with an inherited benign cramp-fasciculation syndrome. At each assessment the clinical severity of cramp was scored and the cramp threshold frequency was measured with repetitive electrical peripheral nerve stimulation. Botulinum toxin injection significantly lowered our patients' clinical cramp severity scores (mean +/- SD: before, 3.80 +/- 0.44; after, 1.40 +/- 0.54), left muscle strength unchanged and significantly increased their cramp threshold frequencies (before, 4.22 +/- 2.26 Hz; after, 10.0 +/- 3.74 Hz). The clinical benefit induced by botulinum toxin lasted about 3 months. Botulinum toxin injections also significantly reduced fasciculation potentials in relaxed muscles (before, 0.86 +/- 0.19 fasciculations/sec; after, 0.45 +/- 0.11 fasciculations/sec). These findings show that local intramuscular injections of botulinum toxin provide effective, safe, and long-lasting relief of cramps possibly by reducing presynaptic cholinergic stimulation of motor nerve terminals and by impairing the input/output function of intrafusal and extrafusal motor end plates.

Published
1997
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