Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations

Autosomal dominant parkinsonism has been attributed to pathogenic amino acid substitutions in leucine-rich repeat kinase 2 (LRRK2). By sequencing multiplex families consistent with a PARK8 assignment, we identified a novel heterozygous LRRK2 mutation. A referral sample of 248 affected probands from...

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Main Authors: Kachergus, Jennifer, Mata, Ignacio F., Hulihan, Mary, Taylor, Julie P., Lincoln, Sarah, Aasly, Jan, Gibson, J. Mark, Ross, Owen A., Lynch, Timothy, Wiley, Joseph, Payami, Haydeh, Nutt, John, Maraganore, Demetrius M., Czyzewski, Krzysztof, Styczynska, Maria, Wszolek, Zbigniew K., Farrer, Matthew J., Toft, Mathias
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2005
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1199304/
https://ncbi.nlm.nih.gov/pubmed/15726496
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