Details

Autor(en) / Beteiligte

• Farrer, Matt
• Wavrant-De Vrieze, Fabienne
• Crook, Richard
• Boles, Lizzie
• Perez-Tur, Jordi
• Hardy, John
• Johnson, William G.
• Steele, John
• Maraganore, Demetrius
• Gwinn, Katrina
• Lynch, Tim

Titel

Low frequency of α-synuclein mutations in familial Parkinson's disease

Ist Teil von

• Annals of neurology, 1998-03, Vol.43 (3), p.394-397

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

1998

Link zum Volltext

Quelle

Wiley Online Library - AutoHoldings Journals

Beschreibungen/Notizen

• 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.