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

Topic: Brain proteins, microglia and lab models

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.

Why it matters

Researchers found a mutation in the alpha-synuclein gene in an Italian family and in three unrelated families of Greek origin with inherited Parkinson's disease. The authors say this finding will help in understanding how the disorder develops.

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Read the original

• DOI: 10.1126/science.276.5321.2045
• PubMed: 9197268
• Original source →

May need a subscription OpenAlex found no free copy of the full text (checked 6 Feb 1020), so the publisher may charge for it. The PubMed abstract is free.

@article{polymeropoulos1997-9197268,
  author  = {Polymeropoulos, Mihael H. and Lavedan, Christian N. and Leroy, Elisabeth and Ide, Susan E. and Dehejia, Anindya M. and Dutra, Amalia and Pike, Brian L. and Root, Holly and Rubenstein, Jeffrey and Boyer, Rebecca and Stenroos, Edward S. and Chandrasekharappa, Settara C. and Athanassiadou, Aglaia and Papapetropoulos, Theodore and Johnson, William G. and Lazzarini, Alice M. and Duvoisin, Roger C. and Di Iorio, Giuseppe and Golbe, Lawrence I. and Nussbaum, Robert L.},
  title   = {{Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease}},
  journal = {Science},
  year    = {1997},
  doi     = {10.1126/science.276.5321.2045},
  pmid    = {9197268},
  url     = {https://doi.org/10.1126/science.276.5321.2045}
}

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