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Nervous System Diseases > Nervous System Malformations > Hereditary Sensory and Motor Neuropathy > Giant Axonal Neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Hereditary Sensory and Motor Neuropathy > Giant Axonal Neuropathy
... > Nervous System Diseases > Neuromuscular Diseases > Peripheral Nervous System Diseases > Polyneuropathies > Hereditary Sensory and Motor Neuropathy > Giant Axonal Neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Sensory and Motor Neuropathy > Giant Axonal Neuropathy
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Sensory and Motor Neuropathy > Giant Axonal Neuropathy

Terme préférentiel

Giant Axonal Neuropathy  

Type

  • mesh:Descriptor

Définition

  • Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).

Concept générique

Synonyme(s)

  • Giant Axonal Neuropathy (GAN)
  • Neuropathy, Giant Axonal

Qualificatif(s) autorisé(s)

Traductions

  • Neuropathie à axones géants

    français

  • NAG (Neuropathie à Axones Géants)
  • Neuropathie à axones géants de type 1
  • Neuropathie à axones géants de type I

URI

http://data.loterre.fr/ark:/67375/JVR-P8C6TTVL-5

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RDF/XML TURTLE JSON-LD Date de création 06/07/2009, dernière modification le 27/05/2020