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

Identifieur interne : 001540 ( Istex/Corpus ); précédent : 001539; suivant : 001541

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

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

Source :

RBID : ISTEX:AB2FE497E09C8ADC123DB97AAB3BA90DC1E8CC8F

English descriptors

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. © 2009 Movement Disorder Society

Url:
DOI: 10.1002/mds.22697

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ISTEX:AB2FE497E09C8ADC123DB97AAB3BA90DC1E8CC8F

Le document en format XML

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<abstract lang="en">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. © 2009 Movement Disorder Society</abstract>
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