A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
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.
Haubenberger
Dietrich
D
Department of Neurology, Medical University of Vienna, and SMZ-Ost Donauspital, Vienna, Austria.
Bonelli
Silvia
S
Hotzy
Christoph
C
Leitner
Petra
P
Lichtner
Peter
P
Samal
Doris
D
Katzenschlager
Regina
R
Djamshidian
Atbin
A
Brücke
Thomas
T
Steffelbauer
Michaela
M
Bancher
Christian
C
Grossmann
Josef
J
Ransmayr
Gerhard
G
Strom
Tim M
TM
Meitinger
Thomas
T
Gasser
Thomas
T
Auff
Eduard
E
Zimprich
Alexander
A
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
D012694:Serine; D001216:Asparagine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases