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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
Author(s) -
Vaughan Jenny,
Durr Alexandra,
Tassin Johann,
Bereznai Benjamin,
Gasser Thomas,
Bonifati Vincenzo,
De Michele Giuseppe,
Fabrizio Edito,
Volpe Gianpiero,
Bandmann O.,
Johnson William G.,
Golbe Lawrence I.,
Breteler Monique,
Meco Giuseppe,
Agid Yves,
Brice Alexis,
Marsden C. David,
Wood Nicholas W.
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410440221
Subject(s) - parkinson's disease , mutation , disease , medicine , alpha synuclein , synuclein , genetics , biology , gene
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 α‐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.