CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

doi:10.3389/fneur.2026.1754143

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Article

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Frontiers in neurology - 1 Jan 2026

Chauvet-Piat Eline, François-Heude Marie-Céline, Manes Gaël, Coget Arthur, Leboucq Nicolas, Lecardonnel Bérénice, Baide-Mairena Heidy, Allais Marine, Touati Souad, Sanchez Stéphanie, Khalil Mirna, Chevassus Hugues, Willems Marjolaine, Geneviève David, Serrand Marion, Mazzola Laure, Dubard Vincent, Renaud Mathilde, Le Camus Caroline, More Rebecca, Milh Mathieu, Paris Caroline, Cécile Ians-Bouteiller, Roubertie Agathe

Abstract excerpt

CTNNB1 monoallelic pathogenic variants account for up to 4% of genetically determined cerebral palsy cases, yet their phenotypic spectrum remains poorly defined. We retrospectively analyzed 25 individuals with pathogenic CTNNB1 variants using medical records and a questionnaire. Data included genetic variants, perinatal history, developmental milestones, behavioral characteristics, head growth, feeding, sleep...

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PMID: 41789168
DOI: 10.3389/fneur.2026.1754143
PMCID: PMC12956669

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CTNNB1

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