Format

Send to

Choose Destination
See comment in PubMed Commons below
Mov Disord. 2013 Jun;28(6):811-3. doi: 10.1002/mds.25421. Epub 2013 Mar 1.

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

Author information

1
Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada. silkec@mail.ubc.ca

Abstract

BACKGROUND:

Alpha-synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha-synuclein, as well as genomic multiplications have been identified as causes for autosomal-dominantly inherited Parkinsonism.

METHODS:

Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa-responsive Parkinson's disease with a family history of parkinsonism and dementia.

RESULTS:

The variant was not observed in public databases or identified in unrelated subjects.

CONCLUSIONS:

The substitution's evolutionary conservation and protein modeling provide additional support for pathogenicity as the amino acid perturbs the same amphipathic alpha helical structure as the previously described pathogenic mutations.

PMID:
23457019
DOI:
10.1002/mds.25421
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Support Center