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THAP11 function has not been fully characterized.
Spinocerebellar ataxia 51 is associated with mutations in the THAP11 gene on chromosome 16.
Genetic testing for THAP11 is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for spinocerebellar ataxia 51.
7 publications have been identified in PubMed for spinocerebellar ataxia 51. Research spans Basic Science / Preclinical (57%) and Review / Meta-Analysis (43%).
Felício D (2026). [PMID: 41818480](https://pubmed.ncbi.nlm.nih.gov/41818480/). *Genome Biol Evol*. [Basic Science / Preclinical]
Wei C (2025). [PMID: 40886825](https://pubmed.ncbi.nlm.nih.gov/40886825/). *Journal of genetics and genomics = Yi chuan xue bao*. [Basic Science / Preclinical]
Danzi MC (2025). [PMID: 39868092](https://pubmed.ncbi.nlm.nih.gov/39868092/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Pellerin D (2025). [PMID: 39820740](https://pubmed.ncbi.nlm.nih.gov/39820740/). *Current neurology and neuroscience reports*. [Review / Meta-Analysis]
Ruan E (2025). [PMID: 40459937](https://pubmed.ncbi.nlm.nih.gov/40459937/). *The Journal of clinical investigation*. [Basic Science / Preclinical]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC
Online Mendelian Inheritance in Man
Chen Z (2025). [PMID: 39349043](https://pubmed.ncbi.nlm.nih.gov/39349043/). *Practical neurology*. [Review / Meta-Analysis]
Rudaks LI (2024). [PMID: 38760634](https://pubmed.ncbi.nlm.nih.gov/38760634/). *Cerebellum (London, England)*. [Review / Meta-Analysis]