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Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease

✍ Scribed by Katja Hedrich; Susen Winkler; Johann Hagenah; Kemal Kabakci; Meike Kasten; Eberhard Schwinger; Jens Volkmann; Peter P. Pramstaller; Vladimir Kostic; Peter Vieregge; Christine Klein

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
95 KB
Volume
21
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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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