Randomized trial uncovers unique artery features in patients with cerebral small vessel disease and COL4A1/COL4A2 duplication, suggesting new diagnostic criteria.
Hereditary cerebral small vessel disease (CSVD) associated with duplication involving region 13q34, which includes both COL4A1/COL4A2 is relatively rare. Here, we report a Japanese family with this duplication along with dilation and tortuosity in the multiple intracranial arteries. A 44-year-old man and his father experienced a lacunar infarction. Brain magnetic resonance imaging revealed multiple white matter hyperintensities and abnormal elongation and tortuosity of the ICA/VA. Genetic studies revealed a distal duplication at 13q34. Our cases suggest that dilation and tortuosity of the multiple intracranial artery may be a distinguishing neuroradiological feature of patients with CSVD caused by COL4A1/COL4A2 duplication. Ryotaro Yui, Teruya Morizumi and Nobuhiko Ohashi contributed equally to this work and share first authorship.
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Yui et al. (2026) studied this question.
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