奥地利帕金森病患者队列中的一种新型LRRK2突变。
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
作者信息
Haubenberger Dietrich, Bonelli Silvia, Hotzy Christoph, Leitner Petra, Lichtner Peter, Samal Doris, Katzenschlager Regina, Djamshidian Atbin, Brücke Thomas, Steffelbauer Michaela, Bancher Christian, Grossmann Josef, Ransmayr Gerhard, Strom Tim M, Meitinger Thomas, Gasser Thomas, Auff Eduard, Zimprich Alexander
机构信息
Department of Neurology, Medical University of Vienna, and SMZ-Ost Donauspital, Vienna, Austria.
出版信息
Mov Disord. 2007 Aug 15;22(11):1640-3. doi: 10.1002/mds.21568.
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.
为了研究奥地利帕金森病（PD）患者样本中富含亮氨酸重复激酶2基因（LRRK2）的突变频率，我们对16例常染色体显性PD患者的完整编码区进行了测序。此外，我们还对146例特发性PD患者和30例路易体痴呆患者的外显子31、35和41进行了测序。此外，对所有192例患者筛查了21种假定的LRRK2突变。虽然在我们的样本中未发现最常见的突变G2019S和风险变异G2385R，但我们在一名家族性、迟发性和多巴反应性PD患者中检测到一种新的错义突变（S973N）。
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