Overview
Spectrin-associated autosomal recessive cerebellar ataxia, also known as SPARCA1 or SCAR14, is an extremely rare inherited neurological condition that primarily affects the cerebellum — the part of the brain responsible for coordinating movement and balance. This disease is caused by mutations in the SPTBN2 gene, which provides instructions for making a protein called beta-III spectrin. When this protein does not work properly, the nerve cells in the cerebellum cannot function normally, leading to progressive problems with coordination and movement. The main symptoms include difficulty with walking and balance (ataxia), problems with fine motor skills, slurred or slow speech, and sometimes intellectual disability or learning difficulties. Symptoms typically begin in childhood and may gradually worsen over time. Some individuals may also experience abnormal eye movements and tremors. There is currently no cure for this condition. Treatment focuses on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help individuals maintain function and independence for as long as possible. Assistive devices such as walkers or wheelchairs may become necessary as the disease progresses. Research into potential treatments is ongoing, but options remain limited at this time.
Also known as:
Key symptoms:
Difficulty walking and poor balance (ataxia)Uncoordinated movementsSlurred or slow speechAbnormal eye movementsTremorsIntellectual disability or learning difficultiesDelayed motor milestonesDifficulty with fine motor tasks like writingMuscle stiffness or spasticityProgressive worsening of coordination over time
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Spectrin-associated autosomal recessive cerebellar ataxia.
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Specialists
View all specialists →No specialists are currently listed for Spectrin-associated autosomal recessive cerebellar ataxia.
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 Spectrin-associated autosomal recessive cerebellar ataxia.
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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 is the expected rate of progression for my child's specific case?,How often should we schedule neurological evaluations and brain imaging?,What therapies (physical, occupational, speech) should we start now?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for carrier status?,What school accommodations should we request for our child?,Are there any complications we should watch for as the disease progresses?
Common questions about Spectrin-associated autosomal recessive cerebellar ataxia
What is Spectrin-associated autosomal recessive cerebellar ataxia?
Spectrin-associated autosomal recessive cerebellar ataxia, also known as SPARCA1 or SCAR14, is an extremely rare inherited neurological condition that primarily affects the cerebellum — the part of the brain responsible for coordinating movement and balance. This disease is caused by mutations in the SPTBN2 gene, which provides instructions for making a protein called beta-III spectrin. When this protein does not work properly, the nerve cells in the cerebellum cannot function normally, leading to progressive problems with coordination and movement. The main symptoms include difficulty with w
How is Spectrin-associated autosomal recessive cerebellar ataxia inherited?
Spectrin-associated autosomal recessive cerebellar ataxia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spectrin-associated autosomal recessive cerebellar ataxia typically begin?
Typical onset of Spectrin-associated autosomal recessive cerebellar ataxia is childhood. Age of onset can vary across affected individuals.