Article
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.
Journal of medical genetics - 1 Nov 2005
Goldwurm S, Di Fonzo A, Simons E J, Rohé C F, Zini M, Canesi M, Tesei S, Zecchinelli A, Antonini A, Mariani C, Meucci N, Sacilotto G, Sironi F, Salani G, Ferreira J, Chien H F, Fabrizio E, Vanacore N, Dalla Libera A, Stocchi F, Diroma C, Lamberti P, Sampaio C, Meco G, Barbosa E, Bertoli-Avella A M, Breedveld G J, Oostra B A, Pezzoli G, Bonifati V
Abstract excerpt
BACKGROUND: Mutations in the gene Leucine-Rich Repeat Kinase 2 (LRRK2) were recently identified as the cause of PARK8 linked autosomal dominant Parkinson's disease. OBJECTIVE: To study recurrent LRRK2 mutations in a large sample of patients from Italy, including early (<50 years) and late onset familial and sporadic Parkinson's disease. RESULTS: Among 629 probands, 13 (2.1%) were heterozygous carriers of the...
Topics
- Adult
- Aged
- Alleles
- Base Sequence
- Female
- Founder Effect
- Heterozygote
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2