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cathepsin a-related arteriopathy-strokes-leukoencephalopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cathepsin a-related arteriopathy-strokes-leukoencephalopathy

MONDO:0035551

Also known as:CARASAL

Overview

A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.

ResearchLimited published research (4 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cathepsin a-related arteriopathy-strokes-leukoencephalopathy.

5 publications have been identified in PubMed for cathepsin a-related arteriopathy-strokes-leukoencephalopathy. Research spans Epidemiology / Natural History (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Cerfontaine MN (2026). [PMID: 41908989](https://pubmed.ncbi.nlm.nih.gov/41908989/). *Neurol Genet*. [Epidemiology / Natural History]
Yang JO (2025). [PMID: 39916465](https://pubmed.ncbi.nlm.nih.gov/39916465/). *J Stroke*. [Epidemiology / Natural History]
Saks DG (2025). [PMID: 39840612](https://pubmed.ncbi.nlm.nih.gov/39840612/). *Curr Opin Psychiatry*. [Review / Meta-Analysis]
Maramattom BV (2024). [PMID: 38994734](https://pubmed.ncbi.nlm.nih.gov/38994734/). *Ann Indian Acad Neurol*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:575553

GARD

Genetic and Rare Diseases Info Center

GARD:22320

Questions for Your Care Team

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cathepsin a-related arteriopathy-strokes-leukoencephalopathy

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team