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

Article Details

Citation

Nichols WC, Pankratz N, Hernandez D, Paisan-Ruiz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T

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

Lancet. 2005 Jan 29-Feb 4;365(9457):410-2.

PubMed ID
15680455 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Leucine-rich repeat serine/threonine-protein kinase 2Q5S007Details