Overview
Alexander disease type I, also known as infantile Alexander disease, is a rare and serious brain disorder that belongs to a group of conditions called leukodystrophies. These are diseases that damage the white matter of the brain — the tissue that helps nerve cells communicate with each other. Alexander disease type I is the most common and most severe form of Alexander disease, typically appearing in infants and very young children. The disease is caused by changes (mutations) in the GFAP gene, which provides instructions for making a protein found in brain cells called astrocytes. When this protein is abnormal, it builds up and forms clumps called Rosenthal fibers inside the astrocytes. This damages the brain's white matter and leads to progressive neurological problems. Children with Alexander disease type I usually develop symptoms before age two. Common signs include an abnormally large head (macrocephaly), seizures, stiffness in the arms and legs (spasticity), feeding difficulties, and developmental delays or loss of previously learned skills. As the disease progresses, children may lose the ability to walk, talk, and swallow. Unfortunately, there is currently no cure for Alexander disease type I. Treatment focuses on managing symptoms such as seizures, feeding problems, and spasticity. Despite supportive care, the disease typically leads to severe disability and a shortened lifespan.
Also known as:
Key symptoms:
Abnormally large head size (macrocephaly)SeizuresStiffness or rigidity in arms and legsDevelopmental delaysLoss of previously learned skills (developmental regression)Difficulty feeding or swallowingVomitingFailure to thrive or poor weight gainIntellectual disabilityDifficulty walking or inability to walkDifficulty speaking or loss of speechHydrocephalus (fluid buildup in the brain)Irritability or excessive cryingProblems with coordination and balance
Clinical phenotype terms (22)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Alexander disease type I.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Alexander disease type I at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Alexander disease type I.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Alexander disease type I.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific GFAP mutation does my child have, and does it tell us anything about how the disease might progress?,What seizure medications are best for my child, and what side effects should I watch for?,When should we consider placing a feeding tube, and what are the benefits and risks?,Are there any clinical trials or experimental treatments my child might be eligible for?,What therapies (physical, occupational, speech) do you recommend, and how often?,Should we meet with a palliative care team, and what can they help with?,Since this is a genetic condition, what is the chance of this happening again in a future pregnancy?
Common questions about Alexander disease type I
What is Alexander disease type I?
Alexander disease type I, also known as infantile Alexander disease, is a rare and serious brain disorder that belongs to a group of conditions called leukodystrophies. These are diseases that damage the white matter of the brain — the tissue that helps nerve cells communicate with each other. Alexander disease type I is the most common and most severe form of Alexander disease, typically appearing in infants and very young children. The disease is caused by changes (mutations) in the GFAP gene, which provides instructions for making a protein found in brain cells called astrocytes. When this
How is Alexander disease type I inherited?
Alexander disease type I follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Alexander disease type I typically begin?
Typical onset of Alexander disease type I is infantile. Age of onset can vary across affected individuals.