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

426 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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@article{ee19109e3fa54efb9805c990da2886a9,

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.",

year = "2005",

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doi = "10.1016/S0140-6736(05)17828-3",

language = "English (US)",

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TY - JOUR

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.

UR - https://www.scopus.com/pages/publications/19944432606

UR - https://www.scopus.com/pages/publications/19944432606#tab=citedBy

U2 - 10.1016/S0140-6736(05)17828-3

DO - 10.1016/S0140-6736(05)17828-3

M3 - Article

C2 - 15680455

AN - SCOPUS:19944432606

SN - 0140-6736

VL - 365

SP - 410

EP - 412

JO - Lancet

JF - Lancet

IS - 9457

ER -

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

Abstract

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