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Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.
Features include always present findings: Truncal ataxia, Shrinkage of the cerebellum (cerebellar atrophy), Dysarthria, and Limb ataxia; and common findings: Babinski sign, Difficulty with thinking and memory (cognitive impairment), Nystagmus, and External ophthalmoplegia and others. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 10 | Truncal ataxia, Babinski sign, Dysarthria |
Muscles | 1 | Shrinkage of the cerebellum (cerebellar atrophy) |
Arms and legs | 1 | Limb ataxia |
Eyes | 1 | Nystagmus |
Hormones | 1 | Hypogonadism |
STUB1 function has not been fully characterized.
Autosomal recessive spinocerebellar ataxia 16 is associated with mutations in the STUB1 gene on chromosome 16.
Genetic testing for STUB1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 5 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive spinocerebellar ataxia 16.
5 publications have been identified in PubMed for autosomal recessive spinocerebellar ataxia 16. Research spans Case Report / Case Series (40%), Other (20%), and Review / Meta-Analysis (20%).
Zheng KM (2026). [PMID: 41851873](https://pubmed.ncbi.nlm.nih.gov/41851873/). *BMC Neurol*. [Case Report / Case Series]
Mahale RR (2026). [PMID: 42080998](https://pubmed.ncbi.nlm.nih.gov/42080998/). *Cerebellum*. [Review / Meta-Analysis]
Agianda HAP (2025). [PMID: 39728009](https://pubmed.ncbi.nlm.nih.gov/39728009/). *Mov Disord Clin Pract*. [Other]
De Winter J (2025). [PMID: 39950762](https://pubmed.ncbi.nlm.nih.gov/39950762/). *Mov Disord*. [Basic Science / Preclinical]
Li J (2024). [PMID: 39707479](https://pubmed.ncbi.nlm.nih.gov/39707479/). *Orphanet J Rare Dis*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:47 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center