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Haubenberger, D.* ; Bonelli, S.* ; Hotzy, C.* ; Leitner, P.* ; Lichtner, P. ; Samal, D.* ; Katzenschlager, R.* ; Djamshidian, A.* ; Brücke, T.* ; Steffelbauer, M.* ; Bancher, C.* ; Grossmann, J.* ; Ransmayr, G.* ; Strom, T.M. ; Meitinger, T. ; Gasser, T.* ; Auff, E.* ; *

A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.

Mov. Disord. 22, 1640-1643 (2007)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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
Corresponding Author
Keywords genetics; Parkinson's disease; LRRK2
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Journal Movement Disorders
Quellenangaben Volume: 22, Issue: 11, Pages: 1640-1643 Article Number: , Supplement: ,
Publisher Wiley
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)