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Giant Axonal Neuropathy

What is Giant Axonal Neuropathy?

Giant axonal neuropathy is a rare neurological disorder involving the dysfunction of a specific type of protein in nerve cells which is essential for normal nerve function because it forms neurofilaments that help to define the shape and size of the neurons.

 

Giant axonal neuropathy is a rare neurological disorder involving the dysfunction of a specific type of protein in nerve cells which is essential for normal nerve function because it forms neurofilaments that help to define the shape and size of the neurons.
Acknowledgement of Giant Axonal Neuropathy has not been added yet.
Synonyms for Giant Axonal Neuropathy has not been added yet.
Mutations in the GAN gene cause giant axonal neuropathy. Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Some GAN mutations change the shape of the protein, affecting how it binds to other proteins to form a functional complex. Other mutations prevent cells from producing any gigaxonin protein. Gigaxonin is involved in a cellular function that destroys and gets rid of excess or damaged proteins using a mechanism called the ubiquitin-proteasome system. Neurons without functional gigaxonin accumulate excess neurofilaments in the axon, causing the axons to become distended. These giant axons do not transmit signals properly and eventually deteriorate, resulting in problems with movement and other nervous system dysfunction.
Signs of giant axonal neuropathy usually begin in the peripheral nervous system, which governs movement and sensation in the arms, legs, and other parts of the body. Most individuals with this disorder first have problems with walking. Giant axonal neuropathy (GAN) is characterized by the following: Severe early-onset peripheral motor and sensory neuropathy Tightly curled lackluster hair that differs markedly from that of the parents Central nervous system involvement including mental retardation, cerebellar signs (ataxia, nystagmus, dysarthria), and pyramidal tract signs
The diagnosis of GAN is established by clinical findings including nerve conduction velocity (NCV), brain MRI, and peripheral nerve biopsy. The pathologic hallmark is so-called giant axons caused by the accumulation of neurofilaments. GAN is caused by mutations in the gene GAN, encoding the protein gigaxonin. GAN is the only gene currently known to be associated with GAN; however, evidence exists for genetic heterogeneity. Molecular genetic testing of the GAN gene is available on a research basis only.
Diagnostic tests of Giant Axonal Neuropathy has not been added yet
Treatment of manifestations: A team including (pediatric) neurologists, orthopedic surgeons, physiotherapists, psychologists, and speech and occupational therapists is recommended; goals are to optimize intellectual and physical development through speech therapy to improve communication, occupational therapy to maximize independence in activities of daily living, physiotherapy to preserve mobility as long as possible, and early intervention and special education; orthopedic surgery as needed for foot deformities; ophthalmologic treatment as needed for diplopia. Prevention of secondary complications: for wheelchair-bound or bedridden individuals, prophylaxis and frequent examination for decubitus ulcers. Surveillance: at least yearly reassessment of intellectual abilities, peripheral neuropathy, ataxia, spasticity, and cranial nerve dysfunction.
Prognosis of Giant Axonal Neuropathy has not been added yet.
Tips or Suggestions of Giant Axonal Neuropathy has not been added yet.
References of Giant Axonal Neuropathy has not been added yet.
Gene mutation analysis Created by Hannahshopefund
Last updated 5 Aug 2008, 09:49 PM

Posted by Hannahshopefund
5 Aug 2008, 09:49 PM

Hi everyone. It is very important that every GAN patient have gene sequencing / mutation analysis done. There are two doctors that perform this, Dr. Flanigan in Utah, USA and Dr. Houldon in London, England. This is a blood test that can be drawn by your local care provider and sent to their labs. Each of the physicians can send the instructions for the process of drawing the blood (what color vial, how much, packing, shipping, etc.) This can take some time, up to 12 weeks. We need to be sure that we each have this done, as it tells researchers about the particular mutation. Please contact Hannah's Hope Fund for contact information for these doctors. Website: http://hannahshopefund.org Email: lorisames@yahoo.com mattsames@yahoo.com Phone #: 518-383-9053

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Hannah's Hope Fund for Giant Axonal Neuropathy

We are a parent, family and friend driven organization dedicated to finding a treatment and a cure for Giant Axonal Neuropathy. We are funding research, raising awareness, and facilitating communication to stop this ravaging disease.

03/20/2017

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Gene mutation analysis

Created by Hannahshopefund | Last updated 5 Aug 2008, 09:49 PM


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