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

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

Research output: Contribution to journalArticle

125 Citations (Scopus)

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
Pages (from-to)1843-1847
Number of pages5
JournalMovement Disorders
Volume24
Issue number12
DOIs
Publication statusPublished - Sep 15 2009

Fingerprint

Frontotemporal Dementia
Chorea
Amyotrophic Lateral Sclerosis
Paralysis
Frontotemporal Lobar Degeneration
Motor Neuron Disease
Neuroglia
Brain Stem
Mutation
Proteins
Amyotrophic lateral sclerosis 1

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Kovacs, G. G., Murrell, J. R., Horvath, S., Haraszti, L., Majtényi, K., Molnar, M. J., ... 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

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. / Kovacs, Gabor G.; Murrell, Jill R.; Horvath, Sandor; Haraszti, Laszlo; Majtényi, K.; Molnar, Maria J.; Budka, Herbert; Ghetti, Bernardino; Spina, Salvatore.

In: Movement Disorders, Vol. 24, No. 12, 15.09.2009, p. 1843-1847.

Research output: Contribution to journalArticle

Kovacs, GG, Murrell, JR, Horvath, S, Haraszti, L, Majtényi, K, Molnar, MJ, Budka, H, Ghetti, B & Spina, S 2009, 'TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea', Movement Disorders, vol. 24, no. 12, pp. 1843-1847. https://doi.org/10.1002/mds.22701
Kovacs, Gabor G. ; Murrell, Jill R. ; Horvath, Sandor ; Haraszti, Laszlo ; Majtényi, K. ; Molnar, Maria J. ; Budka, Herbert ; Ghetti, Bernardino ; Spina, Salvatore. / TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. In: Movement Disorders. 2009 ; Vol. 24, No. 12. pp. 1843-1847.
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