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 in Chicago, Illinois. Dr. Opal has been practicing medicine for over 36 years and is rated as an Elite provider by MediFind in the treatment of Giant Axonal Neuropathy. His top areas of expertise are Spinocerebellar Ataxia Type 1, Giant Axonal Neuropathy, Olivopontocerebellar Atrophy, and Spinocerebellar Ataxia.
Proliance Surgeons
Daniel Nelson, MD, is board-certified in anesthesiology, with special certification in interventional pain medicine. He has a special interest in chronic neck and low back pain, joint pain, chronic post-surgical pain, occipital and cervicogenic headache, cancer pain, refractory arthritis pain and regenerative medicine including the treatment of arthritis with stem cell and platelet rich plasma injection therapy.Dr. Nelson is committed to a compassionate approach towards alleviating pain, restoring health, and improving the quality of life for his patients. He employs a rational evidence-based approach to chronic pain using a comprehensive interventional approach which starts with a consultation and ordering medically necessary testing, referrals to specialists, and coordinating physical and manual therapy as well as psychological testing or counseling, if needed. If appropriate, he will initiate an interventional plan that will employ image-guided nerve blocks or injections for diagnostic and/or therapeutic purposes. In some cases, he may recommend procedures and technologies such as radiofrequency ablation of pain generators or an implantable device, but only after noninvasive options have been exhausted. Other issues may need to be addressed including weight loss or gain, depression, anxiety, and sleep disturbances.Dr. Nelson is a founding member and Director-at-Large of the Washington Society of Interventional Pain Physicians. He is on the forefront of the latest innovations in spine therapy and is the first and leading physician in Washington State to implant the Boston Scientific Vertiflex procedure for spinal stenosis.On multiple occasions, Dr. Nelson has been invited to be a guest lecturer at the University of Washington Pain Medicine Fellowship program and has been actively involved in the teaching of pain fellows, medical students, and physician assistants. He has also served as a consultant and speaker to a variety of organizations.In his off time, he enjoys hiking, biking, golfing, skiing, and mountain climbing. He is active in Climb for Captives and Rescue Freedom International, an organization working on behalf of victims of human trafficking. Dr. Nelson is rated as an Advanced provider by MediFind in the treatment of Giant Axonal Neuropathy. His top areas of expertise are Cervical Spondylosis, Sacroiliac Joint Disease, Giant Axonal Neuropathy, and Wallerian Degeneration.
State University Of Iowa
Dimah Saade is a Neurologist and a Pediatrics provider in Iowa City, Iowa. Dr. Saade is rated as an Elite provider by MediFind in the treatment of Giant Axonal Neuropathy. Her top areas of expertise are Giant Axonal Neuropathy, Centronuclear Myopathy, Tubular Aggregate Myopathy, and Congenital Fiber-Type Disproportion. Dr. Saade is currently accepting new patients.
Published Date: July 01, 2020
Published By: National Institutes of Health