期刊
MOVEMENT DISORDERS
卷 24, 期 12, 页码 1843-1847出版社
WILEY
DOI: 10.1002/mds.22697
关键词
TDP-43; atypical dementia; amyotrophic lateral sclerosis; movement disorders; neuropathology
资金
- NIH [AG010133]
- BNEII [LSHM-CT-2004-503039]
- Department of Neurological
- Neurosurgical and Behavioral Sciences
- University of Siena, Siena, Italy
- National Cell Repository for Alzheimer's Disease (NCRAD)
- National Institute on Aging (NIA) [U24 AG21886]
TDP-43 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in a carrier of the novel K263E TARDBP variation, who developed frontotemporal dementia, supranuclear palsy, and chorea, but no signs of motor neuron disease. Neuropathologic examination revealed neuronal and glial TDP-43-immunoreactive deposits, predominantly in subcortical nuclei and brainstem. This is the first report of a TARDBP variation associated with a neurodegenerative syndrome other than ALS. (C) 2009 Movement Disorder Society
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据