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Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
Biomarker and diagnostic research for cerebellar ataxia-ectodermal dysplasia syndrome has been reported in the published literature.
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.
40 publications have been identified in PubMed for cerebellar ataxia-ectodermal dysplasia syndrome. Research spans Case Report / Case Series (59%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 23 |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:24 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Research summaries | 8 | 21% |
Laboratory research | 4 | 10% |
Testing and diagnosis research | 3 | 8% |
Clinical study results | 1 | 3% |
Sousa Brandão P (2026). [PMID: 41582100](https://pubmed.ncbi.nlm.nih.gov/41582100/). *Neuroradiology*. [Review / Meta-Analysis]
Porowski M (2026). [PMID: 41761595](https://pubmed.ncbi.nlm.nih.gov/41761595/). *Am J Case Rep*. [Case Report / Case Series]
Leong JY (2026). [PMID: 41371254](https://pubmed.ncbi.nlm.nih.gov/41371254/). *Pediatrics*. [Review / Meta-Analysis]
Ouqlani C (2026). [PMID: 41323166](https://pubmed.ncbi.nlm.nih.gov/41323166/). *Radiol Case Rep*. [Case Report / Case Series]
Huang S (2026). [PMID: 42043906](https://pubmed.ncbi.nlm.nih.gov/42043906/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Bremond-Gignac D (2026). [PMID: 41455383](https://pubmed.ncbi.nlm.nih.gov/41455383/). *J Fr Ophtalmol*. [Review / Meta-Analysis]
Yilmaz I (2026). [PMID: 42105148](https://pubmed.ncbi.nlm.nih.gov/42105148/). *Cerebellum*. [Case Report / Case Series]
Rakotomamonjy J (2026). [PMID: 41867234](https://pubmed.ncbi.nlm.nih.gov/41867234/). *medRxiv*. [Basic Science / Preclinical]
Liu Z (2026). [PMID: 41526540](https://pubmed.ncbi.nlm.nih.gov/41526540/). *Childs Nerv Syst*. [Diagnostic / Biomarker]
Kravutske Y (2026). [PMID: 42093600](https://pubmed.ncbi.nlm.nih.gov/42093600/). *J Child Neurol*. [Basic Science / Preclinical]
AI-curated news mentioning cerebellar ataxia-ectodermal dysplasia syndrome
Updated Jul 29, 2026
A recent literature review highlights key insights into neuropathic pain associated with CANVAS, a rare condition characterized by cerebellar ataxia, neuropathy, and vestibular areflexia syndrome. The findings may inform future research and treatment strategies for affected patients.
A new study explores the integration of remote testing and machine learning to identify markers of cerebellar ataxia from home. This innovative approach could enhance patient monitoring and facilitate early detection of disease progression.
A new publication discusses the genetic causes of cerebellar ataxia and chorea, emphasizing critical factors for diagnosis and management. This research highlights the importance of understanding genetic etiology in improving patient outcomes.