Article
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.
Parkinsonism & related disorders - 1 Sept 2024
Garone Giacomo, Innocenti Alice, Grasso Melissa, Mandarino Alessandra, Capuano Alessandro, Della Bella Gessica, Frascarelli Flaminia, Diodato Daria, Onesimo Roberta, Zampino Giuseppe, Novelli Antonio, Digilio Maria Cristina, Bartuli Andrea, Dentici Maria Lisa, Parisi Pasquale, Galosi Serena, Tonduti Davide, Bertini Enrico, Sinibaldi Lorenzo, Specchio Nicola
Abstract excerpt
INTRODUCTION: CTNNB1 gene loss-of-function variants cause Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, OMIM 615075). Although motor impairment represents a core feature of this condition, the motor phenotype remains poorly described. We systematically assessed a cohort of 14 patients with disease-causing CTNNB1 variants to better characterize the movement disorder phenotype....
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