Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case report

<i>COL4A2</i> pathogenic variants have been associated with various neurological and extraneurological phenotypes and an incomplete penetrance. The diffuse vascular leukoencephalopathy detectable on this patient's MRI is consistent with the ones observed in <i>COL4A1/COL4A2</i> mutated patients. However, the clinical phenotype of this patient, limited to cognitive decline and behavioral changes occurring in the absence of any overt stroke, is unusual. These data suggest that this phenotype is either caused by the <i>COL4A2</i> variant or is fortuitously associated with this variant or is the result of another cause for which this <i>COL4A2</i> variant acts as a modifier. Memory clinic physicians should consider genetic analyses in the diagnostic workup of vascular leukoencephalopathies, but they should also interpret cautiously the causality between clinico-radiological phenotypes and molecular pathogenic variants, specifically when dealing with variants with possible incomplete penetrance.

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Publication Details

Journal
Cerebral Circulation - Cognition and Behavior
Published
2025-01-01
DOI
https://doi.org/10.1016/j.cccb.2025.100518
Primary Topic
Cell Adhesion Molecules Research
Type
article
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article

Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case report

Virginie Desestret, Elisabeth Tournier‐Lasserve, Alexandre Bani‐Sadr, Isabelle Quadrio et al.
Cerebral Circulation - Cognition and Behavior
Cell Adhesion Molecules Research
article

Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case report

Virginie Desestret, Elisabeth Tournier‐Lasserve, Alexandre Bani‐Sadr, Isabelle Quadrio, Maïté Formaglio, Thibault Coste, Antoine Garnier‐Crussard
article en

Abstract

<i>COL4A2</i> pathogenic variants have been associated with various neurological and extraneurological phenotypes and an incomplete penetrance. The diffuse vascular leukoencephalopathy detectable on this patient's MRI is consistent with the ones observed in <i>COL4A1/COL4A2</i> mutated patients. However, the clinical phenotype of this patient, limited to cognitive decline and behavioral changes occurring in the absence of any overt stroke, is unusual. These data suggest that this phenotype is either caused by the <i>COL4A2</i> variant or is fortuitously associated with this variant or is the result of another cause for which this <i>COL4A2</i> variant acts as a modifier. Memory clinic physicians should consider genetic analyses in the diagnostic workup of vascular leukoencephalopathies, but they should also interpret cautiously the causality between clinico-radiological phenotypes and molecular pathogenic variants, specifically when dealing with variants with possible incomplete penetrance.

Cerebral Circulation - Cognition and BehaviorVol. 9
Université Claude Bernard Lyon 1 (FR), Délégation Paris 5 (FR), Centre National de la Recherche Scientifique (FR), Inserm (FR), Université Paris Cité (FR), Sorbonne Université (FR), Sorbonne Paris Cité (FR), Centre de Recherche en Neurosciences de Lyon (FR), Assistance Publique – Hôpitaux de Paris (FR), Hospices Civils de Lyon (FR), Hôpital Pierre Wertheimer (FR), Institut de Psychiatrie et Neurosciences de Paris (FR), Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (FR), Hôpital Bichat-Claude-Bernard (FR), NeuroDiderot (FR)
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Cell Adhesion Molecules Research
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