Parkinsonism, Lrrk2 G2019S, and tau neuropathology

作者：Ali H. Rajput, Dennis W. Dickson, Christopher A. Robinson, Owen A. Ross, Justus C. Dächsel, S. J. Lincoln, Stephanie A. Cobb, Michele L. Rajput, Matthew James Farrer · 发表于：Neurology · 年份：2006 · DOI：10.1212/01.wnl.0000240220.33950.0c · 被引用次数：215 · 研究领域：Parkinson's Disease Mechanisms and Treatments、RNA regulation and disease、Neurological diseases and metabolism

Lrrk2 G2019S is predominantly associated with alpha-synuclein-immunopositive Lewy body pathology. We have identified Family SK where Lrrk2 G2019S segregates with slowly progressive parkinsonism and the affected proband has tau-immunopositive neurofibrillary tangle pathology. Thus alpha-synucleinopathy and tauopathy, the predominant pathologies associated with parkinsonism, may be alternate outcomes of the same underlying genetic cause. Intriguingly, we observe no evidence of a direct interaction between either the tau or alpha-synuclein protein with Lrrk2.