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

J Vaughan; A Durr; J Tassin; B Bereznai; T Gasser; V Bonifati; G De Michele; E Fabrizio; G Volpe; O Bandmann; W G Johnson; L I Golbe; M Breteler; G Meco; Y Agid; A Brice; C D Marsden; N W Wood

doi:10.1002/ana.410440221

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

Ann Neurol. 1998 Aug;44(2):270-3. doi: 10.1002/ana.410440221.

Authors

J Vaughan¹, A Durr, J Tassin, B Bereznai, T Gasser, V Bonifati, G De Michele, E Fabrizio, G Volpe, O Bandmann, W G Johnson, L I Golbe, M Breteler, G Meco, Y Agid, A Brice, C D Marsden, N W Wood

Affiliation

¹ University Department of Clinical Neurology, Institute of Neurology, London, UK.

PMID: 9708553
DOI: 10.1002/ana.410440221

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Aged, 80 and over
DNA / analysis
Europe
Female
Genetic Testing
Humans
Male
Middle Aged
Mutation
Nerve Tissue Proteins / genetics*
Parkinson Disease / genetics*
Phosphoproteins / genetics*
Polymerase Chain Reaction
Synucleins
White People / genetics*
alpha-Synuclein

Substances

Nerve Tissue Proteins
Phosphoproteins
SNCA protein, human
Synucleins
alpha-Synuclein
DNA