학술논문
Intracerebral hemorrhage as the sole manifestation of COL4A1/A2 duplications.
Document Type
Article
Source
Subject
*LACUNAR stroke
*CEREBRAL hemorrhage
*CEREBRAL small vessel diseases
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Language
ISSN
1590-1874
Abstract
COL4A1 and COL4A2 duplication causes cerebral small vessel disease with recurrent early onset ischemic strokes. Dear Editor, COL4A1 and COL4A2 genes encode proalpha 1 and proalpha 2 chains of type IV collagen, a key constituent of the basement membrane of several epithelial and endothelial tissues, including intracranial [[1]]. Rarely, COL4A1/COL4A2 mutations can present for the first time in adult life with features of small vessel disease, including subcortical hemorrhage, leukoaraiosis, and lacunar infarcts [[3]]. [Extracted from the article]