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Low frequency of α‐synuclein mutations in familial Parkinson's disease
Author(s) -
Farrer Matt,
WavrantDe Vrieze Fabienne,
Crook Richard,
Boles Lizzie,
PerezTur Jordi,
Hardy John,
Johnson William G.,
Steele John,
Maraganore Demetrius,
Gwinn Katrina,
Lynch Tim
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.410430320
Subject(s) - genetics , exon , locus (genetics) , disease , biology , gene , parkinson's disease , lewy body , dementia , genetic linkage , mutation , medicine , pathology
A mutation in exon 4 of the α‐synuclein (NACP) gene has been reported to explain the chromosome 4 linkage to autosomal dominant Parkinson's disease. We developed primers and methods for exonic sequencing of this gene and sequenced the entire coding region of the gene in 6 families with autosomal dominant disease and in 2 cases of lytico and bodig from Guam. In addition, we have sequenced exon 4 of this gene in 5 cases of familial disease and have screened for the specific mutation (A53T) in a 40 cases of idiopathic Parkinson's disease, 3 cases of multisystem atrophy, and 15 cases of Lewy body dementia. We have found no genetic variation in the gene. We discuss these findings with respect to both the epidemiology of Parkinson's disease and the possibility that NACP is not the chromosome 4 locus for disease.