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<p>Hereditary cerebral small vessel disease (CSVD) associated with duplication involving region 13q34, which includes both <i>COL4A1</i>/<i>COL4A2</i> 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 <i>COL4A1/COL4A2</i> duplication. Ryotaro Yui, Teruya Morizumi and Nobuhiko Ohashi contributed equally to this work and share first authorship.</p>

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Internal carotid and vertebrobasilar artery dolichoectasia in patients with cerebral small vessel disease and COL4A1/COL4A2 duplication

  • 期刊论文

  • 发表日期：

    2026年5月1日

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  • Ryotaro Yui,
  • Teruya Morizumi,
  • Nobuhiko Ohashi,
  • Katsuya Nakamura,
  • Shinji Masuko,
  • Fumihito Ichinohe,
  • Yoshiki Sekijima

摘要

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.