ArticleActa neurologica Belgica2026
COL4A1/COL4A2 gene duplication causing hereditary cerebral small vessel disease in a Chinese patient.
Article in Acta neurologica Belgica, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
The pathogenic mechanisms and distinct clinical phenotypes associated with copy number variation (CNV)-mediated hereditary cerebral small vessel disease (hCSVD) remain poorly characterized in current literature. We report the case of a 49-year-old woman presenting with six confirmed episodes of acute ischemic stroke (AIS) over a 7-year disease course. Despite adherence to standardized neuroprotective and rehabilitation therapies, she exhibited persistent neurological deficits, including dysarthria, right-sided hemiparesis, and ataxia. Head MRI revealed prior ischemic infarctions in the bilateral centrum semiovale, periventricular regions, basal ganglia, thalamus, and brainstem. Whole-exome sequencing identified a pathogenic 13.4‑Mb duplication at 13q32.2‑q34, encompassing the COL4A1 and COL4A2 loci, consistent with the molecular diagnostic criteria for COL4A1/COL4A2-related hCSVD. In summary, we report a case of COL4A1/COL4A2 duplication-associated hCSVD in a Chinese patient. This finding expands the known phenotypic spectrum and contributes to the understanding of the pathogenicity of this CNV. It also provides a basis for future studies to investigate whether these underlying mechanisms are conserved across populations.
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