Journal
MOVEMENT DISORDERS
Volume 24, Issue 12, Pages 1843-1847Publisher
WILEY
DOI: 10.1002/mds.22697
Keywords
TDP-43; atypical dementia; amyotrophic lateral sclerosis; movement disorders; neuropathology
Categories
Funding
- 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]
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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
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