一个患有TDP-43病理改变的家族中的进行性核上性麻痹。
Progressive supranuclear palsy in a family with TDP-43 pathology.
作者信息
Kertesz A, Finger E, Murrell J, Chertkow H, Ang L C, Baker M, Ravenscroft T, Rademakers R, Munoz D G
机构信息
a Department of Clinical Neurological Sciences , Schulich School of Medicine and Dentistry, University of Western Ontario , 39 Doncaster Ave, London , ON , N6G 2A1 , Canada.
出版信息
Neurocase. 2015;21(2):178-84. doi: 10.1080/13554794.2013.878729. Epub 2014 Jan 30.
Abstract
UNLABELLED
A member of a family with an autosomal dominant pattern of frontotemporal dementia (FTD) with a TDP-43 pathological substrate in other members and no mutations in FTD-associated genes developed behavioral variant FTD followed by Progressive Supranuclear Palsy. Autopsy revealed a pure tauopathy of PSP pattern.
CONCLUSIONS
The findings raise the possibility of shared pathogenic pathways and a proximal genetic abnormality between PSP and FTLD-43.
摘要
未标注
一个家族中，有成员患常染色体显性额颞叶痴呆（FTD），其他成员有TDP - 43病理底物且FTD相关基因无突变，该家族一名成员先出现行为变异型FTD，随后发展为进行性核上性麻痹。尸检显示为PSP型的纯tau蛋白病。
结论
这些发现增加了PSP和FTLD - 43之间存在共同致病途径和近端基因异常的可能性。
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