Recurrent LRRK2 ( Park8 ) mutations in early‐onset Parkinson's disease
2006; Wiley; Volume: 21; Issue: 9 Linguagem: Inglês
10.1002/mds.20990
ISSN1531-8257
AutoresKatja Hedrich, Susen Winkler, Johann Hagenah, Kemal Kabakci, Meike Kasten, E. Schwinger, Jens Volkmann, Peter P. Pramstaller, Vladimir Kostić, P. Vieregge, Christine Klein,
Tópico(s)Ginkgo biloba and Cashew Applications
ResumoAbstract Mutations in LRRK2 ( leucine‐rich repeat kinase 2 ) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3′ exons of the gene. The majority of mutations have been detected in late‐onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early‐onset and 42 late‐onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early‐onset patients. Screening of an additional 220 early‐onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early‐onset PD. © 2006 Movement Disorder Society
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