Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations
Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations
复制标题
DOI：
10.1212/01.wnl.0000280574.17166.26
复制
发表时间：
2008-02-12
期刊：
影响因子：
9.9
通讯作者：
Van Deerlin, V. M.
中科院分区：
文献类型：
--
作者：
Chen-Plotkin, A. S.;Yuan, W.;Van Deerlin, V. M.
背景：LRRK2基因突变是家族性和非家族性帕金森综合征的重要原因。尽管有多形性病理学，但LRRK2突变被认为在临床上表现为典型的帕金森病（PD）。然而，大多数遗传筛选已被限制到PD clinic population.Objective：临床特征LRRK2突变的情况下招募从一个频谱的neurodegenerative diseases.Methods：我们筛选常见的G2019S突变和几个额外的先前报道的LRRK2突变在434个人。共招募了254例神经退行性疾病的诊所和180例神经退行性疾病的尸检病例从宾夕法尼亚大学脑bank.Results：8例被发现窝藏LRRK2突变进行了评估。在突变的患者中，两个呈现认知缺陷，导致临床诊断为corticobasal综合征和原发性进行性aphasia.Conclusion：LRRK2相关的神经退行性疾病的临床表现可能比以前假设的更异质性。
Background: Mutations in the LRRK2 gene are an important cause of familial and nonfamilial parkinsonism. Despite pleomorphic pathology, LRRK2 mutations are believed to manifest clinically as typical Parkinson disease (PD). However, most genetic screens have been limited to PD clinic populations.Objective: To clinically characterize LRRK2 mutations in cases recruited from a spectrum of neurodegenerative diseases.Methods: We screened for the common G2019S mutation and several additional previously reported LRRK2 mutations in 434 individuals. A total of 254 patients recruited from neurodegenerative disease clinics and 180 neurodegenerative disease autopsy cases from the University of Pennsylvania brain bank were evaluated.Results: Eight cases were found to harbor a LRRK2 mutation. Among patients with a mutation, two presented with cognitive deficits leading to clinical diagnoses of corticobasal syndrome and primary progressive aphasia.Conclusion: The clinical presentation of LRRK2-associated neurodegenerative disease may be more heterogeneous than previously assumed.