Preferred Label : TDP-43 proteinopathies;
MeSH definition : Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated,
and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions
of the pathologic protein in neurons and glia, without the presence of AMYLOID, is
the major feature of these conditions, thus making these proteinopathies distinct
from most other neurogenerative disorders in which protein misfolding leads to brain
amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS
exhibit this common method of pathogenesis and thus they may represent two extremes
of a continuous clinicopathological spectrum of one disease.;
MeSH synonym : proteinopathy, TDP-43; proteinopathies, TDP-43; TDP-43 proteinopathy; TDP 43 proteinopathies;
Origin ID : D057177;
UMLS CUI : C2718017;
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Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated,
and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions
of the pathologic protein in neurons and glia, without the presence of AMYLOID, is
the major feature of these conditions, thus making these proteinopathies distinct
from most other neurogenerative disorders in which protein misfolding leads to brain
amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS
exhibit this common method of pathogenesis and thus they may represent two extremes
of a continuous clinicopathological spectrum of one disease.
