遗传多效性与皮质基底节变性和进行性核上性麻痹的共同病理特征：病例报告及文献复习。
Genetic pleiotropy and the shared pathological features of corticobasal degeneration and progressive supranuclear palsy: a case report and a review of the literature.
机构信息
Memory and Aging Center, University of California, San Francisco, CA, United States.
Global Brain Health Institute, University of California, San Francisco, CA, United States.
出版信息
Neurocase. 2021 Apr;27(2):120-128. doi: 10.1080/13554794.2021.1879869. Epub 2021 Mar 23.
Abstract
Though distinct pathological entities, corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) share multiple biochemical and genetic features suggesting overlapping pathophysiology. We report the case of a patient with an 18-year clinical course consistent with behavioral variant frontotemporal dementia. The neuropathological assessment revealed unclassifiable frontotemporal lobar degeneration with tau-immunoreactive inclusions sharing features of both CBD and PSP. Whole-genome sequencing revealed a unique combination of pleiotropic genetic risk variants associated with both PSP and CBD. These findings support the observation that CBD and PSP share genetic co-expression networks that influence neurodegenerative pathogenesis common to 4R tauopathies.
摘要
虽然皮质基底节变性 (CBD) 和进行性核上性麻痹 (PSP) 是两种不同的病理实体，但它们具有多种生化和遗传特征，表明它们具有重叠的病理生理学机制。我们报告了一例临床病程为 18 年的患者，其临床表现符合行为变异型额颞叶痴呆。神经病理学评估显示，非典型额颞叶 lobar 变性，伴有 tau 免疫反应性包涵体，具有 CBD 和 PSP 的共同特征。全基因组测序显示，与 PSP 和 CBD 相关的多种遗传风险变异的独特组合。这些发现支持了这样一种观察结果，即 CBD 和 PSP 共享遗传共表达网络，这些网络影响与 4R tau 病共有的神经退行性发病机制。
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