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Article

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

Movement disorders : official journal of the Movement Disorder Society - 15 Sept 2009

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 19609911
DOI: 10.1002/mds.22697

Genes

TARDBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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