Giant Axonal NeuropathySymptoms, Doctors, Treatments, Advances & More
Learn About Giant Axonal Neuropathy
Giant axonal neuropathy is an inherited condition characterized by abnormally large and dysfunctional axons called giant axons. Axons are specialized extensions of nerve cells (neurons) that transmit nerve impulses. Symptoms of the disorder first become apparent in the peripheral nervous system, in which long axons connect the brain and spinal cord (central nervous system) to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. However, axons in the central nervous system are affected as well.
Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Gigaxonin is part of the ubiquitin-proteasome system, which is a process that identifies and gets rid of excess or damaged proteins within cells. In particular, gigaxonin plays a role in the breakdown of neurofilaments, which comprise the structural framework that establishes the size and shape of axons.
Giant axonal neuropathy is a very rare disorder; only about 50 affected families have been described in the medical literature. The condition is thought to be underdiagnosed because its early symptoms resemble those of other, more common disorders affecting the peripheral nervous system, such as Charcot-Marie-Tooth disease.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Puneet Opal is a Neurologist practicing medicine in Chicago, Illinois. He has been practicing medicine for over 37 years. Dr. Opal is rated as an Elite provider by MediFind in the treatment of Giant Axonal Neuropathy. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Spinocerebellar Ataxia Type 1, Olivopontocerebellar Atrophy, Giant Axonal Neuropathy, and Spinocerebellar Ataxia. Dr. Opal is board certified in American Board Of Psychiatry And Neurology - Neurology (Certified).
National Institutes Of Health
Tanya Lehky is a Neurologist practicing medicine in Bethesda, Maryland. Dr. Lehky is rated as an Elite provider by MediFind in the treatment of Giant Axonal Neuropathy. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Giant Axonal Neuropathy, Chediak-Higashi Syndrome, Peripheral Neuropathy, and Sandhoff Disease.
Children's National Hospital
Diana Bharucha is a Pediatric Neurologist practicing medicine in Washington, Washington, D.c.. Dr. Bharucha is rated as an Elite provider by MediFind in the treatment of Giant Axonal Neuropathy. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Giant Axonal Neuropathy, Dysferlinopathy, Limb-Girdle Muscular Dystrophy, and Miyoshi Myopathy.
Summary: Giant axonal neuropathy (GAN) is a rare pediatric disorder caused by autosomal recessive mutations in the GAN gene. GAN is a multisystem, neurodegenerative disorder affecting the peripheral nervous system (PNS), central nervous system (CNS) and autonomic nervous system (ANS). GAN is a fatal disease with many patients not surviving past early adulthood due to aspiration pneumonia and pulmonary comp...
Published Date: July 01, 2020
Published By: National Institutes of Health