Overview
Autosomal recessive cerebellar ataxia due to STUB1 deficiency — also known as SCAR16 (spinocerebellar ataxia, autosomal recessive 16) or ARCA-STUB1 — is a rare inherited brain disorder that affects coordination and balance. It is caused by changes (mutations) in both copies of the STUB1 gene, which provides instructions for making a protein called CHIP. This protein helps the body clear away damaged or misfolded proteins inside cells. When CHIP does not work properly, harmful proteins can build up, especially in brain cells, leading to progressive damage. The disease mainly affects the cerebellum, the part of the brain that controls movement and coordination. Over time, people with this condition develop worsening problems with walking, balance, and fine motor skills. Many people also experience cognitive changes, such as difficulties with memory and thinking, as well as features that overlap with other movement disorders. Some individuals develop signs similar to Huntington disease or spinocerebellar ataxia. Currently, there is no cure for this condition. Treatment focuses on managing symptoms, improving quality of life, and slowing functional decline through physical therapy, occupational therapy, and supportive care. Research into this disease is ongoing, and understanding the STUB1 gene's role may open doors to future targeted therapies.
Also known as:
Key symptoms:
Poor balance and unsteady walking (ataxia)Difficulty with coordination of arms and handsSlurred or slow speech (dysarthria)Involuntary eye movements (nystagmus)Tremor or shaking of the hands or bodyMuscle stiffness or rigiditySlow or reduced movements (bradykinesia)Memory problems and difficulty thinking clearlyPersonality or behavioral changesDifficulty swallowingWeakness in the limbsLoss of reflexes or abnormal reflexesGradual loss of independence in daily activities
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive cerebellar ataxia due to STUB1 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive cerebellar ataxia due to STUB1 deficiency.
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 cerebellar ataxia due to STUB1 deficiency.
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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.What stage is my disease at, and what changes should I expect over the next few years?,Are there any clinical trials or research studies I might be eligible to join?,Which therapies — physical, occupational, or speech — should I start now, and how often should I attend?,Should my family members be tested for the STUB1 gene mutation?,Are there any medications that might help manage my tremor, stiffness, or other symptoms?,What signs should prompt me to seek emergency care or contact you urgently?,Are there specialist ataxia centers or expert clinicians you would recommend I see?
Common questions about Autosomal recessive cerebellar ataxia due to STUB1 deficiency
What is Autosomal recessive cerebellar ataxia due to STUB1 deficiency?
Autosomal recessive cerebellar ataxia due to STUB1 deficiency — also known as SCAR16 (spinocerebellar ataxia, autosomal recessive 16) or ARCA-STUB1 — is a rare inherited brain disorder that affects coordination and balance. It is caused by changes (mutations) in both copies of the STUB1 gene, which provides instructions for making a protein called CHIP. This protein helps the body clear away damaged or misfolded proteins inside cells. When CHIP does not work properly, harmful proteins can build up, especially in brain cells, leading to progressive damage. The disease mainly affects the cerebe
How is Autosomal recessive cerebellar ataxia due to STUB1 deficiency inherited?
Autosomal recessive cerebellar ataxia due to STUB1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive cerebellar ataxia due to STUB1 deficiency typically begin?
Typical onset of Autosomal recessive cerebellar ataxia due to STUB1 deficiency is adult. Age of onset can vary across affected individuals.