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Mutation in the -Synuclein Gene Identified in Families with Parkinson's Disease

✍ Scribed by Polymeropoulos, M. H.

Book ID: 111931894
Publisher: American Association for the Advancement of Science
Year: 1997
Tongue: English
Weight: 447 KB
Volume: 276
Category: Article
ISSN: 0036-8075
DOI: 10.1126/science.276.5321.2045

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✦ Synopsis

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 α-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.

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