Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration

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• 作者：Carles Gaig ; Mario Ezquerra ; Maria José ; Martí ; Francesc Valldeoriola ; Esteban Muñ ; oz ; Albert Lladó ; Maria Jes&#xfa ; s Rey ; Adriana Cardozo ; José ; Luis Molinuevo ; Eduardo Tolosa
• 关键词：LRRK2 G2019S mutation ; LRRK2 R1441G mutation ; Parkinson's disease ; Dementia with Lewy bodies ; Frontotemporal lobar degeneration ; Non-specific nigral degeneration ; Neuropathology
• 刊名：Journal of the Neurological Sciences
• 出版年：2008
• 期刊代码：178_0022510x
• 类别：med
• 出版时间：15 July 2008
• 卷：270
• 期：1-2
• 页码：94-98
• 文件大小：138 K

摘要

The neuropathology associated with LRRK2 mutations is heterogeneous but Lewy body (LB) type pathology is the most common substrate encountered. While the prevalence of LRRK2 mutations has been extensively studied in Parkinson's disease (PD), limited information is available on the frequency of LRRK2 mutations in dementia with Lewy bodies (DLB) and in other pathological conditions associated with these mutations, such as non-specific nigral degeneration without LB, tau-immunopositive neurofibrillary tangle pathology, and ubiquitin-positive neuronal inclusions resembling those observed in a subtype of frontotemporal lobar degeneration (FTLD-U).