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Article

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

Neurogenetics - 1 May 2026

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 42065832
DOI: 10.1007/s10048-026-00905-3

Genes

COL4A1
COL4A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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