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| Mutation in the alpha-synuclein gene identified in families with Parkinson's disease |
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| Author(s): Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, DiIorio G, Golbe LI, Nussbaum RL |
| Source: SCIENCE Volume: 276 Issue: 5321 Pages: 2045-2047 Published: JUN 27 1997 |
| Times Cited: 2,593 References: 28 |
| Abstract: Parkinson Is 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Polymeropoulos, MH (reprint author), NIH, LAB GENET DIS RES, NATL HUMAN GENOME RES INST, BLDG 10, BETHESDA, MD 20892 USA |
Addresses:
1. NIH, LAB GENE TRANSFER, NATL HUMAN GENOME RES INST, BETHESDA, MD 20892 USA
2. UNIV MED & DENT NEW JERSEY, ROBERT WOOD JOHNSON MED SCH, PISCATAWAY, NJ 08854 USA
3. UNIV NAPLES 2, INST NEUROL SCI, FAC MED, NAPLES, ITALY
4. UNIV PATRAS, SCH MED, GR-26110 PATRAS, GREECE |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: XG748 |
| ISSN: 0036-8075 |
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