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

作者：Haubenberger Dietrich; Bonelli Silvia; Hotzy Christoph; Leitner Petra; Lichtner Peter; Samal Doris; Katzenschlager Regina; Djamshidian Albin; Bruecke Thomas; Steffelbauer Michaela; Bancher Christian; Grossmann Josef; Ransmayr Gerhard; Strom Tim M; Meitinger Thomas; Gasser Thomas; Auff Eduard; Zimprich Alexander^*

来源：Movement Disorders, 2007, 22(11): 1640-1643.

DOI：10.1002/mds.21568

• genetics
• Parkinson's disease
• LRRK2

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.

• 出版日期2007-8-15