Article
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.
American journal of human genetics - 1 Apr 2005
Kachergus Jennifer, Mata Ignacio F, Hulihan Mary, Taylor Julie P, Lincoln Sarah, Aasly Jan, Gibson J Mark, Ross Owen A, Lynch Timothy, Wiley Joseph, Payami Haydeh, Nutt John, Maraganore Demetrius M, Czyzewski Krzysztof, Styczynska Maria, Wszolek Zbigniew K, Farrer Matthew J, Toft Mathias
Abstract excerpt
Autosomal dominant parkinsonism has been attributed to pathogenic amino acid substitutions in leucine-rich repeat kinase 2 (LRRK2). By sequencing multiplex families consistent with a PARK8 assignment, we identified a novel heterozygous LRRK2 mutation. A referral sample of 248 affected probands from families with autosomal dominant parkinsonism was subsequently assessed; 7 (2.8%) were found to carry a heterozygous...
Topics
- Age Factors
- Aged
- Amino Acid Sequence
- Female
- Gene Frequency
- Genes, Dominant
- Humans
- Ireland
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2