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A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
Mov. Disord. 22, 1640-1643 (2007)
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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
genetics; Parkinson's disease; LRRK2
Language
english
Publication Year
2007
HGF-reported in Year
2007
ISSN (print) / ISBN
0885-3185
e-ISSN
1531-8257
Journal
Movement Disorders
Quellenangaben
Volume: 22,
Issue: 11,
Pages: 1640-1643
Publisher
Wiley
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)
POF-Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-500700-001
PubMed ID
17523199
WOS ID
000249228800020
Scopus ID
34748853923
Erfassungsdatum
2007-08-15