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

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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
Pages (from-to)410-412
Number of pages3
JournalThe Lancet
Volume365
Issue number9457
DOIs
StatePublished - Jan 29 2005

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Genetic Testing
Leucine
Parkinson Disease
Phosphotransferases
Mutation
DNA
Genes

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., ... Foroud, T. (2005). Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. The Lancet, 365(9457), 410-412. https://doi.org/10.1016/S0140-6736(05)17828-3

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. / Nichols, William C.; Pankratz, Nathan; Hernandez, Dena; Paisán-Ruíz, Coro; Jain, Shushant; Halter, Cheryl A.; Michaels, Veronika E.; Reed, Terry; Rudolph, Alice; Shults, Clifford W.; Singleton, Andrew; Foroud, Tatiana.

In: The Lancet, Vol. 365, No. 9457, 29.01.2005, p. 410-412.

Research output: Contribution to journalArticle

Nichols, WC, Pankratz, N, Hernandez, D, Paisán-Ruíz, C, Jain, S, Halter, CA, Michaels, VE, Reed, T, Rudolph, A, Shults, CW, Singleton, A & Foroud, T 2005, 'Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease', The Lancet, vol. 365, no. 9457, pp. 410-412. https://doi.org/10.1016/S0140-6736(05)17828-3
Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. The Lancet. 2005 Jan 29;365(9457):410-412. https://doi.org/10.1016/S0140-6736(05)17828-3
Nichols, William C. ; Pankratz, Nathan ; Hernandez, Dena ; Paisán-Ruíz, Coro ; Jain, Shushant ; Halter, Cheryl A. ; Michaels, Veronika E. ; Reed, Terry ; Rudolph, Alice ; Shults, Clifford W. ; Singleton, Andrew ; Foroud, Tatiana. / Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. In: The Lancet. 2005 ; Vol. 365, No. 9457. pp. 410-412.
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