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

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.

Source: Parkinsonism and Related Disorders - June 27, 2020 Category: Neurology Authors: Michael Zech, Theresa Brunet, Matej Škorvánek, Astrid Blaschek, Katharina Vill, Britta Hanker, Irina Hüning, Vladimír Haň, Petra Došekova, Zuzana Gdovinová, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Evžen Růžička, Erik-Jan Kamsteeg, Jaspe Tags: Short communication Source Type: research