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Movement Disorders (revue)

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LRRK2 variation and Parkinson's disease in African Americans

Identifieur interne : 000106 ( Pmc/Corpus ); précédent : 000105; suivant : 000107

LRRK2 variation and Parkinson's disease in African Americans

Auteurs : Owen A. Ross ; Greggory J. Wilhoite ; Justin A. Bacon ; Alexandra Soto-Ortolaza ; Jennifer Kachergus ; Stephanie A. Cobb ; Andreas Puschmann ; Carles Vilari O-Güell ; Matthew J. Farrer ; Neill Graff-Radford ; James F. Meschia ; Zbigniew K. Wszolek

Source :

RBID : PMC:2939165

Abstract

The global impact of LRRK2 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and thirteen known coding variations however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic-specific LRRK2 variation previously identified in PD further studies in under-represented populations are warranted.


Url:
DOI: 10.1002/mds.23163
PubMed: 20669299
PubMed Central: 2939165

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