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

Mihael H. Polymeropoulos, Christian Lavedan, Elisabeth Leroy, Susan E. Ide, Anindya Dehejia, Amalia Dutra, Brian Pike, Holly Root, Jeffrey Rubenstein, Rebecca Boyer, Edward S. Stenroos, Settara Chandrasekharappa, Aglaia Athanassiadou, Theodore Papapetropoulos, William Johnson, Alice M. Lazzarini, Roger C. Duvoisin, Giuseppe Di Iorio, Lawrence Golbe, Robert L. Nussbaum

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)2045-2047
Number of pages3
JournalScience
Volume276
Issue number5321
DOIs
StatePublished - Jun 27 1997

All Science Journal Classification (ASJC) codes

  • General

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