Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0008489 (
chorea
)
2,102
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. 1960 11
