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Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.
Features include always present findings: Mild intellectual disability, Strabismus, Dysmetria, and Dystonia and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 15 | Mild intellectual disability, Dystonia, Gait ataxia |
Muscles | 4 | Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Appendicular hypotonia |
Eyes | 2 | Strabismus, Oculomotor apraxia |
Arms and legs | 1 | Limb ataxia |
Head and neck | 1 | Mild microcephaly |
Age of onset: adolescence.
CWF19L1 encodes CWF19 like cell cycle control factor 1 (538 aa). Highest expression in Testis (29.1 TPM) and Cells EBV-transformed lymphocytes (25.6 TPM).
Autosomal recessive spinocerebellar ataxia 17 is associated with mutations in the CWF19L1 gene on chromosome 10.
CWF19L1 is classified as a druggable target with score 0.0.
Genetic testing for CWF19L1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal recessive spinocerebellar ataxia 17 has been reported in the published literature.
Phenotype severity distribution: 28 always present features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive spinocerebellar ataxia 17.
5 publications have been identified in PubMed for autosomal recessive spinocerebellar ataxia 17. Research spans Basic Science / Preclinical (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).
Al-Hedaithy A (2025). [PMID: 39747233](https://pubmed.ncbi.nlm.nih.gov/39747233/). *Scientific reports*. [Diagnostic / Biomarker]
De Winter J (2025). [PMID: 39950762](https://pubmed.ncbi.nlm.nih.gov/39950762/). *Movement disorders : official journal of the Movement Disorder Society*. [Basic Science / Preclinical]
Mahdieh N (2024). [PMID: 38570878](https://pubmed.ncbi.nlm.nih.gov/38570878/). *Human genomics*. [Epidemiology / Natural History]
Bagabir HA (2024). [PMID: 39554679](https://pubmed.ncbi.nlm.nih.gov/39554679/). *Pakistan journal of medical sciences*. [Basic Science / Preclinical]
Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum (London, England)*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center