Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

• DOI: 10.1002/mds.21114
• Publication Date: 2006-09-21T21:56:20Z
• Authors: Javier Simón‐Sánchez; José‐Félix Martí‐...; José Vicente Sánc...; Coro Paisán‐Ruiz; Angel Martínez‐Gil; Javier Ruiz‐Martínez; Amets Sáenz; Andrew B. Singleton; Adolfo López de M...; Jordi Pérez‐Tur
• Keywords: Founder effect; LRRK2

Abstract The recent discovery of mutations in Dardarin ( LRRK2 ) have been related to the appearance Parkinson's disease several families. Notably, one single mutation this gene (R1441G) not only appeared familial, but also apparently sporadic Parkinson (PD) patients Basque descent. A clinical population was ascertained, and subjects were classified into non‐Basque descent according their known ancestry. R1441G assayed using an allele‐specific polymerase chain reaction, nucleotide polymorphisms surrounding analyzed by direct sequencing. In addition 22 members original families where identified, we observed 17 carriers who through a common ancestor. From perspective, is indistinguishable from that noncarriers. causes form equivalent idiopathic disease. This appears 16.4% 4.0% familial PD population, respectively. © 2006 Movement Disorder Society