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Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

Parkinsonism & related disorders - 1 Aug 2020

Zech Michael, Brunet Theresa, Škorvánek Matej, Blaschek Astrid, Vill Katharina, Hanker Britta, Hüning Irina, Haň Vladimír, Došekova Petra, Gdovinová Zuzana, Alhaddad Bader, Berutti Riccardo, Strom Tim M, Růžička Evžen, Kamsteeg Erik-Jan, van der Smagt Jasper J, Wagner Matias, Jech Robert, Winkelmann Juliane

Abstract excerpt

INTRODUCTION: The gene encoding myelin-associated glycoprotein (MAG) has been implicated in autosomal-recessive spastic paraplegia type 75. To date, only four families with biallelic missense variants in MAG have been reported. The genotypic and phenotypic spectrum of MAG-associated disease awaits further elucidation. METHODS: Four unrelated patients with complex neurologic conditions underwent whole-exome...

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PMID: 32629324
DOI: 10.1016/j.parkreldis.2020.06.027

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