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Autosomal dominant Parkinson's disease

M H Polymeropoulos1

  • 1National Institutes of Health, National Human Genome Research Institute, Laboratory of Genetic Disease Research, Bethesda, MD 20892, USA. mhp@nhgri.nih.gov

Journal of Neurology
|November 10, 1998
PubMed
Summary

Genetic mutations in alpha-synuclein are linked to Parkinson's disease (PD). This study identified a specific mutation in familial PD cases, suggesting a role for alpha-synuclein in neurodegeneration.

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The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease.

Arquivos de neuro-psiquiatria·2001

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Parkinson's disease (PD) etiology is multifactorial, with hereditary factors gaining recent attention.
  • Previous research mapped a PD susceptibility locus to 4q21-q23, a region containing the alpha-synuclein gene.

Purpose of the Study:

  • To investigate the role of alpha-synuclein in familial Parkinson's disease.
  • To identify genetic mutations associated with PD in affected families.

Main Methods:

  • Genome scan of a large Italian family with PD.
  • Mutation analysis of the alpha-synuclein gene in four unrelated PD families.

Main Results:

  • A PD susceptibility gene was mapped to the 4q21-q23 region.
  • A missense mutation in the alpha-synuclein gene was identified and segregated with PD in affected families.

Conclusions:

  • Mutations in the alpha-synuclein gene are associated with Parkinson's disease.
  • Alpha-synuclein dysfunction may lead to protein aggregation, neuronal cell death, and neurodegeneration pathways in PD.

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