Premium
Recurrent LRRK2 ( Park8 ) mutations in early‐onset Parkinson's disease
Author(s) -
Hedrich Katja,
Winkler Susen,
Hagenah Johann,
Kabakci Kemal,
Kasten Meike,
Schwinger Eberhard,
Volkmann Jens,
Pramstaller Peter P.,
Kostic Vladimir,
Vieregge Peter,
Klein Christine
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20990
Subject(s) - lrrk2 , exon , mutation , age of onset , parkinson's disease , medicine , gene mutation , disease , genetics , gene , biology
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