Mutation in the LRRK2 gene is a known genetic cause of Parkinson disease (PD). However, due to the high frequency in which the most frequent LRRK2 mutation is present and the large size of LRRK2 gene, a complete sequence-based screening of the entire coding region has only been performed by a few re
LRRK2 variation and Parkinson's disease in African Americans
✍ Scribed by Owen A. Ross; Greggory J. Wilhoite; Justin A. Bacon; Alexandra Soto-Ortolaza; Jennifer Kachergus; Stephanie A. Cobb; Andreas Puschmann; Carles Vilariño-Güell; Matthew J. Farrer; Neill Graff-Radford; James F. Meschia; Zbigniew K. Wszolek
- Book ID
- 102945521
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 639 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
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 13 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. © 2010 Movement Disorder Society.
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