Cathepsin A-related arteriopathy-strokes-leukoencephalopathy

Get in touch with RARE Concierge.

Contact RARE Concierge

Cathepsin A-related arteriopathy-strokes-leukoencephalopathy

Synonyms: CARASAL

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

Newly diagnosed with
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.