title: Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease.
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.
authors.affiliation: Department of Neurology, University of Lübeck, Lübeck, Germany.
authors.forename: Katja
authors.initials: K
authors.lastname: Hedrich
authors.forename: Susen
authors.initials: S
authors.lastname: Winkler
authors.forename: Johann
authors.initials: J
authors.lastname: Hagenah
authors.forename: Kemal
authors.initials: K
authors.lastname: Kabakci
authors.forename: Meike
authors.initials: M
authors.lastname: Kasten
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schwinger
authors.forename: Jens
authors.initials: J
authors.lastname: Volkmann
authors.forename: Peter P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostic
authors.forename: Peter
authors.initials: P
authors.lastname: Vieregge
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
mesh_terms: D000328:Adult; D000367:Age Factors; D000483:Alleles; D004252:DNA Mutational Analysis; D004292:Dominance, Cerebral / Q000502:physiology; D004453:Echoencephalography; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012008:Recurrence
chemical_list: D005819:Genetic Markers; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases