Alexander Disease
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Learn About Alexander Disease

What is the definition of Alexander Disease?
Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Symptoms of the infantile form include an enlarged brain and head, seizures, stiffness in the arms and/or legs, intellectual disability, and delayed physical development. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, and poor coordination. Alexander disease is caused by genetic changes in the GFAP gene. While this condition is inherited in an autosomal dominant fashion, most cases result from new genetic changes in the gene.
What are the alternative names for Alexander Disease?
  • Alexander disease
  • Alexanders leukodystrophy
  • Megalencephaly in infancy accompanied by progressive spasticity and dementia
Who are the top Alexander Disease Local Doctors?
Advanced in Alexander Disease
Advanced in Alexander Disease

Vanderbilt Medical Group- Teleneurology

1161 21st Ave South, A-0118 Medical Center North, 
Nashville, TN 
Languages Spoken:
English
Offers Telehealth

. Dr. Brown is rated as an Advanced provider by MediFind in the treatment of Alexander Disease. Her top areas of expertise are Movement Disorders, Parkinson's Disease, Hereditary Ataxia, and Huntington Disease.

Gerald V. Raymond
Advanced in Alexander Disease
Pediatrics | Medical Genetics
Advanced in Alexander Disease
Pediatrics | Medical Genetics

Rubenstein Child Health Building

Baltimore, MD 
Languages Spoken:
English

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. His top areas of expertise are Adrenoleukodystrophy (ALD), Leukodystrophy, Pelizaeus-Merzbacher Disease, and Alexander Disease.

 
 
 
 
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Mary A. O'neal
Advanced in Alexander Disease
Advanced in Alexander Disease

University Of Pittsburgh Physicians, Department Of Neurology

3471 5th Avenue, Suite 810, 
Pittsburgh, PA 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Mary A. O'Neal, MD, specializes in neurology and is board-certified in neurology by the American Board of Psychiatry and Neurology. Dr. O'Neal completed her fellowship and residency at Boston University Medical Center and medical degree at Oregon Health & Science University. Dr. O'neal is rated as an Advanced provider by MediFind in the treatment of Alexander Disease. Her top areas of expertise are Migraine with Brainstem Aura, Conversion Disorder, Migraine, and Headache.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center