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The α‐synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases
82
Citations
15
References
1998
Year
GeneticsGenetic EpidemiologyPathologyDisease Gene Identificationα‐Synuclein Ala53thr MutationMendelian DisorderDegenerative PathologyNeurologyNeuropathologyAlpha-synuclein GeneNeurodegenerationAla53thr MutationEuropean CasesNeurodegenerative DiseasesFamilial ParkinsonGenetic DisorderParkinson DiseaseDegenerative DiseaseMedicine
We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the alpha-synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.
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