Alexander DiseaseSymptoms, Doctors, Treatments, Advances & More
Learn About Alexander Disease
Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired.
Mutations in the GFAP gene cause Alexander disease. The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. Several molecules of this protein bind together to form intermediate filaments, which provide support and strength to cells. Mutations in the GFAP gene lead to the production of a structurally altered glial fibrillary acidic protein. The altered protein is thought to impair the formation of normal intermediate filaments. As a result, the abnormal glial fibrillary acidic protein likely accumulates in astroglial cells, leading to the formation of Rosenthal fibers, which impair cell function. It is not well understood how impaired astroglial cells contribute to the abnormal formation or maintenance of myelin, leading to the signs and symptoms of Alexander disease.
The prevalence of Alexander disease is unknown. About 500 cases have been reported since the disorder was first described in 1949.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Vanderbilt Medical Group- Teleneurology
. Dr. Brown is rated as an Advanced provider by MediFind in the treatment of Alexander Disease. She is also highly rated in 36 other conditions, according to our data. Her clinical expertise encompasses Movement Disorders, Parkinson's Disease, Huntington Disease, and Hereditary Ataxia. Dr. Brown is board certified in .
Corewell Health Advanced Primary Care - Alpine
Christopher Barnes is a primary care provider, practicing in Geriatrics in Grand Rapids, Michigan. He has been practicing medicine for over 27 years. Dr. Barnes is rated as an Advanced provider by MediFind in the treatment of Alexander Disease. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Alexander Disease, Canavan Disease, Farber Lipogranulomatosis, and Pelizaeus-Merzbacher Disease. Dr. Barnes is board certified in American Board Of Family Medicine. Dr. Barnes is currently accepting new patients.
Rubenstein Child Health Building
Dr. Gerald Raymond is a clinical geneticist and neurologist at Johns Hopkins where he is also a professor of genetic medicine and neurology. He obtained his MD at the University of Connecticut and was trained in Pediatrics at Johns Hopkins Hospital and Neurology at the Mass. General Hospital. He received additional training in developmental neuropathology at the Universite Catholique de Louvain in Belgium and clinical genetics at the Harvard Program. Dr. Raymond’s research has been at the overlap of genetics and neurology with specific focus on peroxisomal disorders including adrenoleukodystrophy. He has been actively involved in newborn screening for ALD and in developing clinical follow-up programs. He has extensive experience in clinical management of neurogenetic issues including peroxisomal and lysosomal disorders. He presently serves as the Director of the Lysosomal Storage Disease program in the department of Genetic Medicine. Dr. Raymond is rated as an Advanced provider by MediFind in the treatment of Alexander Disease. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Adrenoleukodystrophy (ALD), Metachromatic Leukodystrophy, Farber Lipogranulomatosis, and CACH Syndrome. Dr. Raymond is board certified in American Board Of Medical Genetics And Genomics and American Board Of Psychiatry And Neurology.
Published Date: October 01, 2015
Published By: National Institutes of Health