<i>COL4A1</i> and <i>COL4A2</i> Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults
This large series confirms the pathogenicity of <i>COL4A1/2</i> duplications and triplications in adult-onset CSVD. Phenotypic variability likely reflects differences in duplication/triplication size, gene content, and modifying factors. Our findings highlight a distinct cerebral-only phenotype linked to gene dosage-related overexpression and underscore the importance of screening for copy number variations in patients with otherwise unexplained cerebral microangiopathy, even in the absence of a family history.
Authors
- Chaker Aloui (ORCID: https://orcid.org/0000-0002-0914-5260)
- Dominique Hervé (ORCID: https://orcid.org/0000-0001-6197-6275)
- Elisabeth Tournier‐Lasserve (ORCID: https://orcid.org/0000-0002-3039-1677)
- Hélène Morel
- Stéphanie Guey (ORCID: https://orcid.org/0000-0001-6096-3595)
- Michaelle Corpechot
- Thibault Coste (ORCID: https://orcid.org/0000-0001-5610-7411)
- Hugues Chabriat (ORCID: https://orcid.org/0000-0001-8436-6074)
- S. Kittner
- Eva Pipiras
- Dimitri Renard
- Gwenola Boulday
- Esther A.R. Nibbeling
- Saskia A.J. Lesnik Oberstein
- Françoise Bergametti
Institutions
- University of Maryland, Baltimore (US)
- Inserm (FR)
- Université de Montpellier (FR)
- Université Paris Cité (FR)
- Leiden University Medical Center (NL)
- Sorbonne Université (FR)
- Université Sorbonne Paris Nord (FR)
- Sorbonne Paris Cité (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Centre Hospitalier Universitaire de Nîmes (FR)
- Hôpital Lariboisière (FR)
- Pitié-Salpêtrière Hospital (FR)
- Hôpital Bichat-Claude-Bernard (FR)
- Institut du Cerveau (FR)
Publication Details
- Journal
- Stroke
- Published
- 2026-01-02
- DOI
- https://doi.org/10.1161/strokeaha.125.053813
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00