COL4A1-related familial vascular leukoencephalopathy

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COL4A1-related familial vascular leukoencephalopathy

Synonyms: COL4A1-related brain small vessel disease with hemorrhage | COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome

COL4A1-related familial vascular leukoencephalopathy is a rare genetic neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family manifesting clinically with single or recurrent hemorrhagic and/or ischemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces lacunar infarction and microhemorrhages.

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 http: // Data version September 2023.

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