The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease

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 ther...

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Veröffentlicht in:	Annals of neurology 1998-08, Vol.44 (2), p.270-273
Hauptverfasser:	Vaughan, J, Durr, A, Tassin, J, Bereznai, B, Gasser, T, Bonifati, V, De Michele, G, Fabrizio, E, Volpe, G, Bandmann, O, Johnson, W G, Golbe, L I, Breteler, M, Meco, G, Agid, Y, Brice, A, Marsden, C D, Wood, N W
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Aged, 80 and over alpha-Synuclein DNA - analysis Europe European Continental Ancestry Group - genetics Female Genetic Testing Humans Male Middle Aged Mutation Nerve Tissue Proteins - genetics Parkinson Disease - genetics Phosphoproteins - genetics Polymerase Chain Reaction Synucleins
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Zusammenfassung:	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.
ISSN:	0364-5134