ArticleAnnals of clinical and translational neurology2019
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- A NovelGenes · 2024Article
- Movement disorders and neuropathies: overlaps and mimics in clinical practice.Journal of neurology · 2022Review
- Siglec Ligands.Cells · 2021Review
- NovelJournal of clinical medicine · 2020Article
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Authors and funding
13 authors at 4 institutions in 1 country.
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Abstract
Homozygous mutations in MAG, encoding the myelin-associated glycoprotein, a transmembrane component of the myelin sheath, have been associated with SPG 75 recessive spastic paraplegia. Here, we report the first patient with two compound heterozygous novel MAG mutations (p.A151V and p.S373R) and early developmental delay with a progressive complex phenotype characterized by spastic paraplegia, peripheral sensorimotor neuropathy, intellectual disability, and sensorial dysfunctions with severe optic atrophy and hearing involvement. Brain imaging showed progressive global cerebellar atrophy. We propose that complex hereditary spastic paraplegia, with axonal and demyelinating polyneuropathy, sensorial impairment and intellectual disability might suggest MAG mutations.
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