Whittle A J, Ross O A, Naini A, Gordon P, Mistumoto H, Dächsel J C, Stone J T, Wszolek Z K, Farrer M J, Przedborski S
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA.
J Neural Transm (Vienna). 2007 Mar;114(3):327-9. doi: 10.1007/s00702-006-0525-3. Epub 2006 Jul 25.
Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodegenerative disorder that is reminiscent of amyotrophic lateral sclerosis and Parkinsonism-Dementia Complex. We screened 54 patients with ALS for seven known Lrrk2 pathogenic substitutions in the Roc, COR and kinase domains. No mutations were observed suggesting that this locus does not have a major influence on the ALS phenotype. However we can not rule out other genetic variation at the LRRK2 locus may play a role in parkinsonian disorders with amyotrophic lateral sclerosis and may be considered candidates for genetic screening.
在一个大型德裔加拿大亲属群体中观察到的致病性Lrrk2 Y1699C替代导致了一种神经退行性疾病，这种疾病让人联想到肌萎缩侧索硬化症和帕金森病 - 痴呆综合征。我们对54例肌萎缩侧索硬化症患者的Roc、COR和激酶结构域中的7种已知Lrrk2致病性替代进行了筛查。未观察到突变，这表明该基因座对肌萎缩侧索硬化症表型没有重大影响。然而，我们不能排除LRRK2基因座的其他遗传变异可能在伴有肌萎缩侧索硬化症的帕金森病中起作用，并且可能被视为基因筛查的候选对象。
