Identity-by-Descent Analysis Uncovering a Founder Event in a Novel Hereditary Small Vessel Cerebral Disease
This study demonstrates that this newly identified cerebral small vessel disease is the result of a founder effect, with strong clinical and epidemiological implications. This mutation is likely to be found mainly in regions with recent migratory ties to Brittany, such as the British Isles and North America, highlighting the need for further studies to assess the AluYa5 insertion in these areas. To our knowledge, this is the first reported instance of a founder effect contributing to a cerebral small vessel disease.
Authors
- Chaker Aloui (ORCID: https://orcid.org/0000-0002-0914-5260)
- Eva Pipiras
- Elisabeth Tournier‐Lasserve (ORCID: https://orcid.org/0000-0002-3039-1677)
- Arnaud Maillard (ORCID: https://orcid.org/0009-0002-6761-0164)
- Audrey Delaforge
- Valérie Jobic
- Michaelle Corpechot
- Françoise Bergametti (ORCID: https://orcid.org/0000-0002-9468-652X)
- Thibault Coste (ORCID: https://orcid.org/0000-0001-5610-7411)
- Philippe Jarnoux
Institutions
- Inserm (FR)
- Université Paris Cité (FR)
- Sorbonne Université (FR)
- Hôpital Armand-Trousseau (FR)
- Sorbonne Paris Cité (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Saint-Louis (FR)
- Centre de Documentation de Recherche et d'Expérimentation sur les Pollutions Accidentelles des Eaux (FR)
- NeuroDiderot (FR)
Publication Details
- Journal
- Stroke
- Published
- 2025-03-24
- DOI
- https://doi.org/10.1161/strokeaha.124.049839
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00