European Neurology · 1999 · 20 citations · 11 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersNeurodegenerative Disease GeneticsNeurodegenerative DiseasesNeurodegenerative DisordersParkinson DiseaseParkinsonian DisordersAlpha-synuclein AggregationAlpha-synuclein Gene VariantsFamilial Neurodegenerative DiseaseNeurodegenerative GeneticsParkinson Disease PathologyParkinson's Disease Genetics
The role of genetics in Parkinson's disease (PD), previously controversial, is now supported by several studies. A major breakthrough has been the discovery of a single gene defect in familial Parkinson's disease. A single base pair change at position 209 from G to A (G209A) in the fourth exon of the alpha-synuclein gene has been identified in cases of familial PD. We looked for this mutation in 65 cases of sporadic PD in Taiwan Chinese patients but found none of these patients with this mutation. We conclude that mutation of G209A in the alpha-synuclein gene plays no role in sporadic PD among Taiwan Chinese.
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Mihael H. Polymeropoulos, Christian Lavedan, Elisabeth Leroy et al. · Science · 1997 · 8.2K citations
Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23
Mihael H. Polymeropoulos, Joseph Higgins, Lawrence I. Golbe et al. · Science · 1996 · 782 citations · Full text