title: Analysis of LRRK2 functional domains in nondominant Parkinson disease.
abstract: A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T>A), which are likely to be pathogenic in five patients. One patient presented initially with a typical essential tremor phenotype, expanding the phenotypic spectrum of LRRK2 mutations.
authors.affiliation: Department of Population Genetics, Genome Institute of Singapore, Singapore.
authors.forename: L
authors.initials: L
authors.lastname: Skipper
authors.forename: H
authors.initials: H
authors.lastname: Shen
authors.forename: E
authors.initials: E
authors.lastname: Chua
authors.forename: C
authors.initials: C
authors.lastname: Bonnard
authors.forename: P
authors.initials: P
authors.lastname: Kolatkar
authors.forename: L C S
authors.initials: LC
authors.lastname: Tan
authors.forename: R D
authors.initials: RD
authors.lastname: Jamora
authors.forename: K
authors.initials: K
authors.lastname: Puvan
authors.forename: K Y
authors.initials: KY
authors.lastname: Puong
authors.forename: Y
authors.initials: Y
authors.lastname: Zhao
authors.forename: R
authors.initials: R
authors.lastname: Pavanni
authors.forename: M C
authors.initials: MC
authors.lastname: Wong
authors.forename: Y
authors.initials: Y
authors.lastname: Yuen
authors.forename: M
authors.initials: M
authors.lastname: Farrer
authors.forename: J J
authors.initials: JJ
authors.lastname: Liu
authors.forename: E K
authors.initials: EK
authors.lastname: Tan
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D044469:Racial Groups; D017678:Sex Distribution
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases