Overview
Autosomal recessive spastic ataxia with leukoencephalopathy (ARSAL) is a very rare inherited neurological condition that affects the brain and spinal cord. It is also known as spastic ataxia type 3 or MARS-related leukoencephalopathy. The disease is caused by mutations in the MARS1 gene (also called MARS), which provides instructions for making an enzyme important for building proteins in cells. When this enzyme does not work properly, it leads to damage in the white matter of the brain (called leukoencephalopathy), which is the tissue that helps nerve cells communicate with each other. People with ARSAL typically develop problems with coordination (ataxia) and stiffness in the legs (spasticity), which worsen over time. Symptoms usually begin in childhood or young adulthood and may include difficulty walking, balance problems, slurred speech, and cognitive difficulties. Brain MRI scans show characteristic abnormalities in the white matter. The disease tends to progress slowly, but the severity can vary from person to person, even within the same family. There is currently no cure for ARSAL. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, and medications to reduce muscle stiffness are commonly used. A team of specialists, including neurologists and rehabilitation experts, typically provides care. Research into this condition is ongoing, and understanding of the disease continues to grow as more cases are identified.
Also known as:
Key symptoms:
Stiffness and tightness in the legs (spasticity)Poor coordination and balance (ataxia)Difficulty walkingSlurred or slow speechWhite matter abnormalities on brain MRICognitive difficulties or learning problemsTremorWeakness in the legsBladder control problemsFatigueDifficulty with fine motor tasks like writingProgressive worsening of movement abilities
Clinical phenotype terms (16)— hover any for plain English
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 Autosomal recessive spastic ataxia with leukoencephalopathy.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive spastic ataxia with leukoencephalopathy.
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 Autosomal recessive spastic ataxia with leukoencephalopathy.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.How quickly is this disease likely to progress in my case or my child's case?,What therapies should we start right away to maintain function as long as possible?,Are there any clinical trials or research studies we could participate in?,What medications can help with the stiffness and spasticity?,How often should we have brain MRI scans to monitor the white matter changes?,Should other family members be tested to see if they are carriers?,What school or workplace accommodations should we request?
Common questions about Autosomal recessive spastic ataxia with leukoencephalopathy
What is Autosomal recessive spastic ataxia with leukoencephalopathy?
Autosomal recessive spastic ataxia with leukoencephalopathy (ARSAL) is a very rare inherited neurological condition that affects the brain and spinal cord. It is also known as spastic ataxia type 3 or MARS-related leukoencephalopathy. The disease is caused by mutations in the MARS1 gene (also called MARS), which provides instructions for making an enzyme important for building proteins in cells. When this enzyme does not work properly, it leads to damage in the white matter of the brain (called leukoencephalopathy), which is the tissue that helps nerve cells communicate with each other. Peopl
How is Autosomal recessive spastic ataxia with leukoencephalopathy inherited?
Autosomal recessive spastic ataxia with leukoencephalopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.