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

✍ Scribed by Dietrich Haubenberger; Silvia Bonelli; Christoph Hotzy; Petra Leitner; Peter Lichtner; Doris Samal; Regina Katzenschlager; Atbin Djamshidian; Thomas Brücke; Michaela Steffelbauer; Christian Bancher; Josef Grossmann; Gerhard Ransmayr; Tim M. Strom; Thomas Meitinger; Thomas Gasser; Eduard Auff; Alexander Zimprich

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
110 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

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. © 2007 Movement Disorder Society

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