Format

Send to

Choose Destination
See comment in PubMed Commons below
Neurosci Lett. 2004 Aug 26;367(1):97-100.

Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease.

Author information

1
Laboratory of Neurogenetics, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA. hope.andrew@mayo.edu

Abstract

Missense mutations and genomic multiplications of the alpha-synuclein gene (SNCA) have been linked to autosomal dominant familial Parkinson's disease. We screened 50 probands of families with autosomal dominant parkinsonism for alpha-synuclein mutations by exon sequencing. No known or novel mutations were found. We also analyzed the genomic DNA for multiplications of the SNCA locus using multiplex panels of microsatellite markers. All samples were diploid with two normal copies of the SNCA locus. Hence, alpha-synuclein missense mutations and SNCA genomic multiplications remain a rare cause of disease.

PMID:
15308306
DOI:
10.1016/j.neulet.2004.05.100
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center