Article
Lrrk2 pathogenic substitutions in Parkinson's disease.
Neurogenetics - 1 Dec 2005
Mata Ignacio F, Kachergus Jennifer M, Taylor Julie P, Lincoln Sarah, Aasly Jan, Lynch Timothy, Hulihan Mary M, Cobb Stephanie A, Wu Ruey-Meei, Lu Chin-Song, Lahoz Carlos, Wszolek Zbigniew K, Farrer Matthew J
Abstract excerpt
Leucine-rich repeat kinase 2 (LRRK2) mutations have been implicated in autosomal dominant parkinsonism, consistent with typical levodopa-responsive Parkinson's disease. The gene maps to chromosome 12q12 and encodes a large, multifunctional protein. To identify novel LRRK2 mutations, we have sequenced 100 affected probands with family history of parkinsonism. Semiquantitative analysis was also performed in all...
Topics
- Adult
- Aged
- Female
- Gene Deletion
- Genetic Variation
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Male
- Middle Aged
- Mutation
- Parkinson Disease