Article
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Neurogenetics - 1 Apr 2022
Cheung Anthony, Argyriou Catherine, Yergeau Christine, D'Souza Yasmin, Riou Émilie, Lévesque Sébastien, Raymond Gerald, Daba Mebratu, Rtskhiladze Irakli, Tkemaladze Tinatin, Adang Laura, La Piana Roberta, Bernard Geneviève, Braverman Nancy
Abstract excerpt
Peroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD)-are primarily autosomal recessive disorders caused by mutations in any of 13 PEX genes involved in peroxisome assembly. Compared to other PEX-related disorders, some PEX16 defects are associated with an atypical phenotype consisting of spasticity, cerebellar dysfunction, preserved cognition, and prolonged survival. In this case series, medical...
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