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

doi:10.1016/S0140-6736(05)17828-3

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

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

412 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 language	English (US)
Pages (from-to)	410-412
Number of pages	3
Journal	Lancet
Volume	365
Issue number	9457
DOIs	https://doi.org/10.1016/S0140-6736(05)17828-3
State	Published - Jan 29 2005

Bibliographical note

Funding Information:
This project was supported by NS37167, AG18736, and M01 RR-00750. CP-R is a recipient of an FPI fellowship from the Ministerio de Educación y Ciencia (GEN2001-4851-C06-01). We thank Dr Ira Shoulson for his leadership in this collaborative study and the participants for their involvement.

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title = "Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease",

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.",

author = "Nichols, {William C.} and Nathan Pankratz and Dena Hernandez and Coro Pais{\'a}n-Ru{\'i}z and Shushant Jain and Halter, {Cheryl A.} and Michaels, {Veronika E.} and Terry Reed and Alice Rudolph and Shults, {Clifford W.} and Andrew Singleton and Tatiana Foroud",

note = "Funding Information: This project was supported by NS37167, AG18736, and M01 RR-00750. CP-R is a recipient of an FPI fellowship from the Ministerio de Educaci{\'o}n y Ciencia (GEN2001-4851-C06-01). We thank Dr Ira Shoulson for his leadership in this collaborative study and the participants for their involvement.",

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T1 - Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

AU - Nichols, William C.

AU - Pankratz, Nathan

AU - Hernandez, Dena

AU - Paisán-Ruíz, Coro

AU - Jain, Shushant

AU - Halter, Cheryl A.

AU - Michaels, Veronika E.

AU - Reed, Terry

AU - Rudolph, Alice

AU - Shults, Clifford W.

AU - Singleton, Andrew

AU - Foroud, Tatiana

N1 - Funding Information: This project was supported by NS37167, AG18736, and M01 RR-00750. CP-R is a recipient of an FPI fellowship from the Ministerio de Educación y Ciencia (GEN2001-4851-C06-01). We thank Dr Ira Shoulson for his leadership in this collaborative study and the participants for their involvement.

PY - 2005/1/29

Y1 - 2005/1/29

N2 - 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.

AB - 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.

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

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