Rare Diseases Symptoms Automatic Extraction

Dysfunctions of neuronal and glial intermediate filaments in disease.

[alexander disease]

Intermediate filaments (IFs) are abundant structures found in most eukaryotic cells, including those in the nervous system. In the CNS, the primary components of neuronal IFs are alpha-internexin and the neurofilament triplet proteins. In the peripheral nervous system, a fifth neuronal IF protein known as peripherin is also present. IFs in astrocytes are primarily composed of glial fibrillary acidic protein (GFAP), although vimentin is also expressed in immature astrocytes and some mature astrocytes. In this Review, we focus on the IFs of glial cells (primarily GFAP) and neurons as well as their relationship to different neurodegenerative diseases.

Diseases presenting "fibrillary acidic protein" symptom

  • alexander disease
  • canavan disease
  • erdheim-chester disease
  • hirschsprung disease
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • von hippel-lindau disease

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