Article

A glucosylcholesterol-cytoskeleton axis links GBA2 loss-of-function to synaptic and mitochondrial pathology in Hereditary Spastic Paraplegia

2026-08-31

Abstract excerpt

<h4>Background: </h4> GBA2-associated hereditary spastic paraplegia (SPG46) is a rare autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in GBA2, encoding the non-lysosomal glucocerebrosidase 2. GBA2 deficiency leads to glucosylceramide (GlcCer) accumulation and glucosylated cholesterol (GlcChol) depletion, causing cytoskeletal defects in immature neurons. However, the mechanisms l...

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Literature Corpus work: a651bb7c-cfc4-5346-86d2-c8540cf6d1ee
DOI: 10.64898/2026.08.26.747028

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