Key result
COL4A1 and COL4A2 gene duplications present with transient right-sided hemiparesis and leukoencephalopathy without infarction.
Case Report (n=1)
A case report detailing cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications in a young woman presenting with transient hemiparesis.
COL4A1/2 duplications may underlie unexplained young-onset CSVD; leaves open prevalence and causality pending larger cohorts.
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Renard et al. (2014) conducted a case report in Cerebral small-vessel disease (n=1). COL4A1 and COL4A2 gene duplications was evaluated. A 44-year-old woman with COL4A1 and COL4A2 gene duplications presented with transient right-sided hemiparesis and leukoencephalopathy without infarction.
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