Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Cathepsin A-related arteriopathy-strokes-leukoencephalopathy?
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