Mutation in the α-synuclein gene identified in families with Parkinson's disease

Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for the disorder, and it was recently reported that a PD susceptibility gene in a large Italian kindred is located on the l...

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Published in:Science (American Association for the Advancement of Science) 1997-06, Vol.276 (5321), p.2045-2047
Main Authors: POLYMEROPOULOS, M. H, LAVEDAN, C, STENROOS, E. S, CHANDRASEKHARAPPA, S, ATHANASSIADOU, A, PAPAPETROPOULOS, T, JOHNSON, W. G, LAZZARINI, A. M, DUVOISIN, R. C, DI LORIO, G, GOLBE, L. I, NUSSBAUM, R. L, LEROY, E, IDE, S. E, DEHEJIA, A, DUTRA, A, PIKE, B, ROOT, H, RUBENSTEIN, J, BOYER, R
Format: Article
Language:English
Subjects:
Age of Onset
alpha-Synuclein
Amino Acid Sequence
Animals
Base Sequence
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 4
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Genes, Dominant
Genetic Markers
Greece
Humans
Italy
Male
Medical genetics
Medical sciences
Molecular Sequence Data
Nerve Tissue Proteins - chemistry
Nerve Tissue Proteins - genetics
Nerve Tissue Proteins - physiology
Neurology
Parkinson disease
Parkinson Disease - genetics
Parkinson's disease
Parkinsonism
Pedigree
Phenotype
Point Mutation
Polymerase Chain Reaction
Protein Structure, Secondary
Synucleins
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Description
Summary:Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for the disorder, and it was recently reported that a PD susceptibility gene in a large Italian kindred is located on the long arm of human chromosome 4. A mutation was identified in the alpha-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype. This finding of a specific molecular alteration associated with PD will facilitate the detailed understanding of the pathophysiology of the disorder.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.276.5321.2045