Features include always present findings: Shrinkage of the cerebellum (cerebellar atrophy), Ataxia, Hypomimic face, and Pes planus; and very common findings: Strabismus and Nonprogressive cerebellar ataxia. 20 total HPO annotations.

ATCAY encodes ATCAY kinesin light chain interacting caytaxin (371 aa). Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. Highest expression in Brain Frontal Cortex BA9 (108.9 TPM) and Brain Cortex (104.7 TPM).

Cayman type cerebellar ataxia is associated with mutations in the ATCAY gene on chromosome 19.

ATCAY is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for ATCAY is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 2 very common features, 12 common features.

Estimated prevalence: Unknown (Unknown prevalence).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for Cayman type cerebellar ataxia. Research spans Case Report / Case Series (33%), Epidemiology / Natural History (33%), and Other (17%).

Recent Publications

• Villa-Lopez M (2025). [PMID: 40537356](https://pubmed.ncbi.nlm.nih.gov/40537356/). *Parkinsonism & related disorders*. [Case Report / Case Series]

• Milovanović A (2025). [PMID: 40915867](https://pubmed.ncbi.nlm.nih.gov/40915867/). *Parkinsonism & related disorders*. [Other]

• Villa-Lopez M (2025). [PMID: 41198475](https://pubmed.ncbi.nlm.nih.gov/41198475/). *Parkinsonism & related disorders*. [Case Report / Case Series]

• Dhar D (2025). [PMID: 38842035](https://pubmed.ncbi.nlm.nih.gov/38842035/). *The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry*. [Review / Meta-Analysis]