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Disease TDP-43 Proteinopathies

Name TDP-43 Proteinopathies
Synonyms Proteinopathies, TDP-43 | Proteinopathy, TDP-43 | TDP 43 Proteinopathies | TDP-43 Proteinopathy
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.
Categories Metabolic disease | Nervous system disease
MeSH® ID D057177

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references TDP-43 Proteinopathies Has associated chemicals Has associated genes Has associated exposure references
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Proteostasis Deficiencies Has associated chemicals Has associated genes Has associated exposure references TDP-43 Proteinopathies Has associated chemicals Has associated genes Has associated exposure references

Top ↑ Descendants

TDP-43 Proteinopathies Has associated chemicals Has associated genes Has associated exposure references
View node Amyotrophic Lateral Sclerosis Has associated chemicals Has associated genes Has associated exposure references
View node Frontotemporal Lobar Degeneration Has associated chemicals Has associated genes