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LRRK2 variation and Parkinson's disease in African Americans

Ross, Owen A.; Wilhoite, Greggory J.; Bacon, Justin A.; Soto-Ortolaza, Alexandra I.; Kachergus, Jennifer; Cobb, Stephanie A; Puschmann, Andreas LU ; Vilariño-Güell, Carles; Farrer, Matthew J. and Graff-Radford, Neill R, et al. (2010) In Movement Disorders 25(12). p.1973-1992
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.

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author
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publishing date
type
Contribution to journal
publication status
published
keywords
Genetics, Leucine-rich repeat kinase 2, Parkinsonism
in
Movement Disorders
volume
25
issue
12
pages
20 pages
publisher
John Wiley & Sons
external identifiers
  • scopus:77956863399
ISSN
0885-3185
DOI
10.1002/mds.23163
language
English
LU publication?
no
id
bb267ef7-d1f5-4a2c-8ddf-b79d9d0a9d69
date added to LUP
2017-03-31 11:59:03
date last changed
2018-05-29 11:08:15
@article{bb267ef7-d1f5-4a2c-8ddf-b79d9d0a9d69,
  abstract     = {<p>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 (&gt;5%) pathogenic mutations. Given the ethnic-specific LRRK2 variation previously identified in PD further studies in under-represented populations are warranted.</p>},
  author       = {Ross, Owen A. and Wilhoite, Greggory J. and Bacon, Justin A. and Soto-Ortolaza, Alexandra I. and Kachergus, Jennifer and Cobb, Stephanie A and Puschmann, Andreas and Vilariño-Güell, Carles and Farrer, Matthew J. and Graff-Radford, Neill R and Meschia, James F. and Wszolek, Zbigniew K},
  issn         = {0885-3185},
  keyword      = {Genetics,Leucine-rich repeat kinase 2,Parkinsonism},
  language     = {eng},
  month        = {09},
  number       = {12},
  pages        = {1973--1992},
  publisher    = {John Wiley & Sons},
  series       = {Movement Disorders},
  title        = {LRRK2 variation and Parkinson's disease in African Americans},
  url          = {http://dx.doi.org/10.1002/mds.23163},
  volume       = {25},
  year         = {2010},
}