Input of exome sequencing in early‐onset cerebral amyloid angiopathy

The genetic component of cerebral amyloid angiopathy (CAA) remains understudied.Rare differential diagnoses such as CADASIL should be considered, even in cases of cerebral hemorrhage.Our study suggests shared genetic factors between AD and CAA, beyond the <i>APOE</i> gene.Rare variants in <i>SORL1, TREM2</i>, <i>ABCA7, ABCA1</i> and <i>ATP8B4</i> might be susceptibility factors in early-onset CAA.

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Publication Details

Journal
Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring
Published
2024-10-01
DOI
https://doi.org/10.1002/dad2.70027
Citations
2
Primary Topic
Cerebrovascular and genetic disorders
Type
article
Field-Weighted Citation Impact
0.74

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article

Input of exome sequencing in early‐onset cerebral amyloid angiopathy

Camille Charbonnier, David Wallon, Elisabeth Tournier‐Lasserve, Lou Grangeon et al.
2 citations
Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring
Cerebrovascular and genetic disorders
0.74
article

Input of exome sequencing in early‐onset cerebral amyloid angiopathy

Camille Charbonnier, David Wallon, Elisabeth Tournier‐Lasserve, Lou Grangeon, Gaël Nicolas, Robert Olaso, Aline Zaréa, Stéphane Rousseau, Jean‐François Deleuze, Anne Boland, Olivier Quenez, Anne Richard
article en
2 citations

Abstract

The genetic component of cerebral amyloid angiopathy (CAA) remains understudied.Rare differential diagnoses such as CADASIL should be considered, even in cases of cerebral hemorrhage.Our study suggests shared genetic factors between AD and CAA, beyond the <i>APOE</i> gene.Rare variants in <i>SORL1, TREM2</i>, <i>ABCA7, ABCA1</i> and <i>ATP8B4</i> might be susceptibility factors in early-onset CAA.

Alzheimer s & Dementia Diagnosis Assessment & Disease MonitoringVol. 16(4)
Inserm (FR), Université Paris Cité (FR), Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR), Université Paris-Saclay (FR), Centre National de Recherche en Génomique Humaine (FR), Assistance Publique – Hôpitaux de Paris (FR), CEA Paris-Saclay (FR), Université de Rouen Normandie (FR)
Agence Nationale de la Recherche, Université de Rouen
Good health and well-being
Openalex Percentile: Top 25%
Cerebrovascular and genetic disorders
0.74
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Input of exome sequencing in early‐onset cerebral amyloid angiopathy — Camille Charbonnier, David Wallon, et al. · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring (2024) | TGRS Research Map | TGRS