Article
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2022
Ganne Benjamin, Dauriat Benjamin, Richard Laurence, Lamari Foudil, Ghorab Karima, Magy Laurent, Benkirane Mehdi, Perani Alexandre, Marquet Valentine, Calvas Patrick, Yardin Catherine, Bourthoumieu Sylvie
Abstract excerpt
AB variant is the rarest form of GM2 gangliosidosis, neurodegenerative diseases caused by lysosomal accumulation of GM2 gangliosides. Less than thirty cases are referenced in the literature, and to date, no late-onset form has been described. Our proband is a 22-year-old male with spinocerebellar ataxia and lower limbs motor deficiency. His symptoms started at the age of 10. A genetic analysis revealed two...
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