Overview
Leukoencephalopathy with mild cerebellar ataxia and white matter edema (also known as LCAE or sometimes referred to by its gene name as CLCN2-related leukoencephalopathy) is a rare genetic brain disorder that affects the white matter of the brain. White matter is the tissue that connects different parts of the brain and helps nerve signals travel quickly and efficiently. In this condition, the white matter becomes damaged and swollen (edema), which disrupts normal brain function. People with this disease typically develop mild problems with balance and coordination (called cerebellar ataxia) because the cerebellum, the part of the brain that controls movement, is also affected. Other symptoms can include headaches, vision problems, difficulty with fine motor skills, and in some cases mild cognitive difficulties. The severity of symptoms can vary from person to person, with some individuals having relatively mild problems while others may experience more noticeable difficulties. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting quality of life. Physical therapy, occupational therapy, and regular monitoring by a neurologist are important parts of care. Because this is a very rare disease, research is still ongoing to better understand its progression and to develop more targeted treatments. The condition is classified under ICD-10 code E75.2, which groups it with other sphingolipidoses and related white matter disorders.
Key symptoms:
Problems with balance and coordination (ataxia)Unsteady walking or gait difficultiesHeadachesVision problems or visual disturbancesSwelling of the brain's white matterDifficulty with fine motor tasks like writingMild cognitive difficulties or trouble concentratingMuscle stiffness or spasticityFatigueDizzinessTremor or shaking of the handsDifficulty with speech in some cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Leukoencephalopathy with mild cerebellar ataxia and white matter edema.
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Specialists
View all specialists →No specialists are currently listed for Leukoencephalopathy with mild cerebellar ataxia and white matter edema.
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 Leukoencephalopathy with mild cerebellar ataxia and white matter edema.
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 does my brain MRI show, and how does it compare to what is typical for this condition?,How quickly might my symptoms progress, and what should I watch for?,What physical therapy or rehabilitation programs would be most helpful for me?,How often should I have follow-up MRI scans and neurological exams?,Are there any clinical trials or research studies I could participate in?,Should my family members be tested for this genetic condition?,What can I do at home to maintain my balance and coordination as long as possible?
Common questions about Leukoencephalopathy with mild cerebellar ataxia and white matter edema
What is Leukoencephalopathy with mild cerebellar ataxia and white matter edema?
Leukoencephalopathy with mild cerebellar ataxia and white matter edema (also known as LCAE or sometimes referred to by its gene name as CLCN2-related leukoencephalopathy) is a rare genetic brain disorder that affects the white matter of the brain. White matter is the tissue that connects different parts of the brain and helps nerve signals travel quickly and efficiently. In this condition, the white matter becomes damaged and swollen (edema), which disrupts normal brain function. People with this disease typically develop mild problems with balance and coordination (called cerebellar ataxia)
How is Leukoencephalopathy with mild cerebellar ataxia and white matter edema inherited?
Leukoencephalopathy with mild cerebellar ataxia and white matter edema follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.