The role of the alpha-synuclein gene mutation in patients with sporadic Parkinson's disease in the United Kingdom.
Parkinson's disease is a common neurodegenerative disorder of unknown aetiology. A pathogenic point mutation within the a-synuclein gene has recently been identified in one Italian-American kindred and three families of Greek origin with parkinsonism. DNA from 70 patients with Parkinson's disease was screened for this G209A mutation. No samples were positive for the mutation, suggesting that it is not relevant for most patients with sporadic idiopathic Parkinson's disease.
Warner
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University Department of Clinical Neurosciences, Royal Free Hospital School of Medicine, London, UK.
Schapira
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AH
D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D051843:Synucleins; D006113:United Kingdom; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein