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

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

Research output: Contribution to journalArticle

136 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1843-1847
Number of pages5
JournalMovement Disorders
Volume24
Issue number12
DOIs
StatePublished - Sep 15 2009

Keywords

  • Amyotrophic lateral sclerosis
  • Atypical dementia
  • Movement disorders
  • Neuropathology
  • TDP-43

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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    Kovacs, G. G., Murrell, J. R., Horvath, S., Haraszti, L., Majtenyi, K., Molnar, M. J., Budka, H., Ghetti, B., & Spina, S. (2009). TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Movement Disorders, 24(12), 1843-1847. https://doi.org/10.1002/mds.22701