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2
The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy.早发性进行性核上性麻痹的遗传和临床病理特征。
Mov Disord. 2019 Sep;34(9):1307-1314. doi: 10.1002/mds.27786. Epub 2019 Jul 12.
3
Neuropathological correlates of structural and functional imaging biomarkers in 4-repeat tauopathies.4 型tau 病的结构和功能成像生物标志物的神经病理学相关性。
Brain. 2019 Jul 1;142(7):2068-2081. doi: 10.1093/brain/awz122.
4
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.神经元蜡样脂褐质沉积症基因 MFSD8 中的罕见变异是额颞叶痴呆的候选风险因素。
Acta Neuropathol. 2019 Jan;137(1):71-88. doi: 10.1007/s00401-018-1925-9. Epub 2018 Oct 31.
5
Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.进行性核上性麻痹的全基因组关联研究确定了新的易感性位点，并与神经退行性疾病存在遗传相关性。
Mol Neurodegener. 2018 Aug 8;13(1):41. doi: 10.1186/s13024-018-0270-8.
6
Alterations of Growth Factors in Autism and Attention-Deficit/Hyperactivity Disorder.自闭症与注意力缺陷多动障碍中生长因子的改变
Front Psychiatry. 2017 Jul 13;8:126. doi: 10.3389/fpsyt.2017.00126. eCollection 2017.
7
Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.进行性核上性麻痹的临床诊断：运动障碍协会标准。
Mov Disord. 2017 Jun;32(6):853-864. doi: 10.1002/mds.26987. Epub 2017 May 3.
8
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia.皮质基底节变性、进行性核上性麻痹和额颞叶痴呆之间的共同遗传风险。
Acta Neuropathol. 2017 May;133(5):825-837. doi: 10.1007/s00401-017-1693-y. Epub 2017 Mar 7.
9
Tauopathies as clinicopathological entities.作为临床病理实体的tau蛋白病
Parkinsonism Relat Disord. 2016 Jan;22 Suppl 1(0 1):S29-33. doi: 10.1016/j.parkreldis.2015.09.020. Epub 2015 Sep 8.
10
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.皮质基底节变性的全基因组关联研究确定了与进行性核上性麻痹共有的风险变异。
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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.

DOI:10.1080/13554794.2021.1879869
PMID:33754963
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8137543/
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。