CTNNB1-related disorders: clinical and radiological contributions from a French cohort
Abstract
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 difficulties, neurological and ophthalmological assessments. Brain MRIs were reviewed by expert neuroradiologists. Twenty-two distinct heterozygous variants were identified. Microcephaly occurred in 16/22 patients. All exhibited global developmental delay, independent walking was achieved at a mean age of 2.1 years, with regression in 4/16 independent walkers. Behavioral disorders were frequent, as were oral sensorimotor disorders (21/25) and sleep disturbances (13/21). Lower limb hypertonia was present in 22/25 patients [spastic (8) and/or dystonic (11)]. Unstable gait were common among ambulatory patients. Exaggerated startle reactions, often since birth, were reported in 16/21. Exudative vitreoretinopathy was identified in 3/5 patients with retinal angiography. Brain MRI (19 patients) showed: thickening of anterior commissure (8), frontal lobe hypoplasia (9), widening of superior vermian sulci (10) and corpus callosum anomalies (7). This study broadens the spectrum of CTNNB1-related syndrome, reporting a complex motor phenotype combining (i) gait disturbances related…
How strong is the evidence?
Evidence Hub reads this as a cohort study, done in people. Its evidence level is 3 of 5 (Moderate · trial / cohort / secondary analysis). Trials without a large randomized design, cohorts and secondary analyses give moderate evidence. Reported size: 25 participants or records.
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