Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2009 Sep 15;24(12):1843-7.
doi: 10.1002/mds.22697.

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

Gabor G Kovacs  1 , Jill R Murrell, Sandor Horvath, Laszlo Haraszti, Katalin Majtenyi, Maria J Molnar, Herbert Budka, Bernardino Ghetti, Salvatore Spina
Affiliations

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

Gabor G Kovacs et al. Mov Disord. .

Abstract

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms