Cited by 8,240Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and SignalingNeurological disorders and treatments

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

Polymeropoulos, Mihael H., Lavedan, Christian, Leroy, Elisabeth, Ide, Susan E., Dehejia, Anindya, Dutra, Amalia, Pike, Brian, Root, Holly +12 more·1997·Science

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.

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Crossref · 10.1126/science.276.5321.2045

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Authors
Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., Stenroos, E. S., Chandrasekharappa, S., Athanassiadou, A., Papapetropoulos, T., Johnson, W. G., Lazzarini, A. M., Duvoisin, R. C., Di Iorio, G., Golbe, L. I., & Nussbaum, R. L.
Affiliations
  • National Institutes of Health (US)
  • M. H. Polymeropoulos, C. Lavedan, E. Leroy, S. E. Ide, A. Dehejia, J. Rubenstein, R. Boyer, R. L. Nussbaum, Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892–1430, USA.
Corresponding author
  • Polymeropoulos, Mihael H.
  • Lavedan, Christian
  • Leroy, Elisabeth
Venue
Science
Published
1997-06-27
Volume
276
Issue
5321
Pages
2045-2047
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2150656456
Cited by
8,240
References
22
Citations by year
2026: 199 · 2025: 275 · 2024: 309 · 2023: 305 · 2022: 339 · 2021: 346 · 2020: 374 · 2019: 332 · 2018: 328 · 2017: 366 · 2016: 277 · 2015: 281 · 2014: 309 · 2013: 323 · 2012: 300
FWCI
133.18
Type
journal article
Language
en
Open access
closed
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
  • Health Sciences › Medicine › Neurology › Neurological disorders and treatments
Keywords
Parkinson's disease, SNCA mutations, familial aggregation, autosomal dominant inheritance, chromosome 4, presynaptic proteins, neurodegeneration, genetic susceptibility
MeSH terms
Amino Acid Sequence, Animals, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 4, Female, Genes, Dominant, Genetic Markers, Greece, Humans, Italy, Male, Molecular Sequence Data, Nerve Tissue Proteins, Parkinson Disease, Pedigree, Phenotype, Polymerase Chain Reaction, Point Mutation, Protein Structure, Secondary, Age of Onset, Synucleins, alpha-Synuclein

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