title: A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
abstract: To investigate the frequency of mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD.
authors.affiliation: Department of Neurology, Medical University of Vienna, and SMZ-Ost Donauspital, Vienna, Austria.
authors.forename: Dietrich
authors.initials: D
authors.lastname: Haubenberger
authors.forename: Silvia
authors.initials: S
authors.lastname: Bonelli
authors.forename: Christoph
authors.initials: C
authors.lastname: Hotzy
authors.forename: Petra
authors.initials: P
authors.lastname: Leitner
authors.forename: Peter
authors.initials: P
authors.lastname: Lichtner
authors.forename: Doris
authors.initials: D
authors.lastname: Samal
authors.forename: Regina
authors.initials: R
authors.lastname: Katzenschlager
authors.forename: Atbin
authors.initials: A
authors.lastname: Djamshidian
authors.forename: Thomas
authors.initials: T
authors.lastname: Brücke
authors.forename: Michaela
authors.initials: M
authors.lastname: Steffelbauer
authors.forename: Christian
authors.initials: C
authors.lastname: Bancher
authors.forename: Josef
authors.initials: J
authors.lastname: Grossmann
authors.forename: Gerhard
authors.initials: G
authors.lastname: Ransmayr
authors.forename: Tim M
authors.initials: TM
authors.lastname: Strom
authors.forename: Thomas
authors.initials: T
authors.lastname: Meitinger
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
authors.forename: Eduard
authors.initials: E
authors.lastname: Auff
authors.forename: Alexander
authors.initials: A
authors.lastname: Zimprich
mesh_terms: D000368:Aged; D001216:Asparagine / Q000235:genetics; D001317:Austria / Q000208:ethnology; D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics
chemical_list: D012694:Serine; D001216:Asparagine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases