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Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.
Features include very common findings: Progressive cerebellar ataxia; and common findings: Progressive loss of mental abilities (dementia), Motor delay, Postural tremor, and Memory problems (memory impairment) and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Progressive cerebellar ataxia, Progressive loss of mental abilities (dementia), Postural tremor |
Phenotype severity distribution: 1 very common feature, 6 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
88 publications have been identified in PubMed for X-linked spinocerebellar ataxia type 4. Research spans Review / Meta-Analysis (41%), Basic Science / Preclinical (34%), and Epidemiology / Natural History (11%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 36 | 41% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked spinocerebellar ataxia type 4
Bones and joints |
1 |
Postural tremor |
Laboratory research |
30 |
34% |
Disease patterns and progression | 10 | 11% |
Patient case studies | 7 | 8% |
Clinical study results | 3 | 3% |
New treatment approaches | 2 | 2% |
Bohbot E (2026). [PMID: 40855977](https://pubmed.ncbi.nlm.nih.gov/40855977/). *Current opinion in rheumatology*. [Review / Meta-Analysis]
Turturice BA (2026). [PMID: 40581580](https://pubmed.ncbi.nlm.nih.gov/40581580/). *Annals of the rheumatic diseases*. [Clinical Trial Publication]
Groarke EM (2026). [PMID: 41520673](https://pubmed.ncbi.nlm.nih.gov/41520673/). *Lancet (London, England)*. [Review / Meta-Analysis]
Nakagawa Y (2026). [PMID: 42105168](https://pubmed.ncbi.nlm.nih.gov/42105168/). *Cerebellum*. [Case Report / Case Series]
Menden B (2026). [PMID: 41690933](https://pubmed.ncbi.nlm.nih.gov/41690933/). *Nature communications*. [Epidemiology / Natural History]
Tomooka R (2025). [PMID: 40659667](https://pubmed.ncbi.nlm.nih.gov/40659667/). *Nature communications*. [Basic Science / Preclinical]
Dong G (2025). [PMID: 40906528](https://pubmed.ncbi.nlm.nih.gov/40906528/). *The Journal of clinical investigation*. [Basic Science / Preclinical]
Zaimoku Y (2025). [PMID: 40846800](https://pubmed.ncbi.nlm.nih.gov/40846800/). *Clinical and experimental medicine*. [Review / Meta-Analysis]
Shen Y (2025). [PMID: 40765127](https://pubmed.ncbi.nlm.nih.gov/40765127/). *The American journal of case reports*. [Case Report / Case Series]
Eatz T (2025). [PMID: 40650768](https://pubmed.ncbi.nlm.nih.gov/40650768/). *Journal of neurology*. [Review / Meta-Analysis]