Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

William C. Nichols, Nathan Pankratz, Dena Hernandez, Coro Paisán-Ruíz, Shushant Jain, Cheryl A. Halter, Veronika E. Michaels, Terry Reed, Alice Rudolph, Clifford W. Shults, Andrew Singleton, Tatiana Foroud

Research output: Contribution to journalArticle

362 Scopus citations

Abstract

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal dominant Parkinson's disease. We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson's disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5%) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson's disease. Thus, our results suggest that a single LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease.

Original languageEnglish (US)
Pages (from-to)410-412
Number of pages3
JournalLancet
Volume365
Issue number9457
DOIs
StatePublished - Jan 29 2005

ASJC Scopus subject areas

  • Medicine(all)

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    Nichols, W. C., Pankratz, N., Hernandez, D., Paisán-Ruíz, C., Jain, S., Halter, C. A., Michaels, V. E., Reed, T., Rudolph, A., Shults, C. W., Singleton, A., & Foroud, T. (2005). Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet, 365(9457), 410-412. https://doi.org/10.1016/S0140-6736(05)17828-3