Overview
Alexander disease type II is a rare brain disorder that mainly affects the white matter of the brain, which is the tissue that helps nerve cells communicate with each other. Unlike the more severe infantile form (type I), type II typically begins later in life, usually in childhood, adolescence, or even adulthood. It is caused by changes (mutations) in the GFAP gene, which provides instructions for making a protein found in certain brain cells called astrocytes. When this protein is abnormal, it builds up and forms clumps called Rosenthal fibers, which damage the brain over time. People with Alexander disease type II may experience a range of symptoms including difficulty with coordination and balance (ataxia), problems with speech and swallowing, progressive weakness or stiffness in the legs, and sometimes changes in thinking and behavior. Seizures can occur but are less common than in the infantile form. Some patients also develop problems with the brainstem, which controls basic functions like breathing and heart rate. There is currently no cure for Alexander disease type II. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, speech therapy, medications for seizures or muscle stiffness, and nutritional support. Research is ongoing to find therapies that can slow or stop the disease from progressing. The course of the disease varies widely — some people have a slowly progressive condition over many years, while others may experience more rapid decline.
Also known as:
Key symptoms:
Problems with balance and coordination (ataxia)Difficulty speaking or slurred speechDifficulty swallowingStiffness or spasticity in the legsWeakness in the arms or legsSeizuresSlow decline in thinking and memoryPersonality or behavior changesSleep problemsNausea and vomiting (related to brainstem involvement)Abnormal eye movementsPalatal tremor (rhythmic movements of the roof of the mouth)Breathing difficultiesFatigue
Clinical phenotype terms (20)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Alexander disease type II.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Alexander disease type II 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 II.
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 II.
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 stage is the disease at currently, and what changes should we expect over the coming months or years?,Are there any clinical trials or experimental treatments available for Alexander disease type II?,What therapies (physical, speech, occupational) should we start now to maintain function as long as possible?,How will we monitor for brainstem complications, and what should we do if breathing or swallowing worsens?,Should other family members be tested for the GFAP mutation?,What emergency signs should we watch for, and what is the plan if they occur?,Are there specialized leukodystrophy centers we should consider for ongoing care?
Common questions about Alexander disease type II
What is Alexander disease type II?
Alexander disease type II is a rare brain disorder that mainly affects the white matter of the brain, which is the tissue that helps nerve cells communicate with each other. Unlike the more severe infantile form (type I), type II typically begins later in life, usually in childhood, adolescence, or even adulthood. It is caused by changes (mutations) in the GFAP gene, which provides instructions for making a protein found in certain brain cells called astrocytes. When this protein is abnormal, it builds up and forms clumps called Rosenthal fibers, which damage the brain over time. People with
How is Alexander disease type II inherited?
Alexander disease type II follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.