Gaucher Disease (Neuropathic)

Neuropathic Gaucher disease is a lysosomal storage disorder caused by mutations in the GBA gene, leading to glucocerebrosidase deficiency and accumulation of glucosylceramide. Neurological manifestations include oculomotor abnormalities, seizures, cognitive impairment, and pyramidal signs. Pathophysiology involves lysosomal dysfunction, neuronal accumulation of substrate, and neuroinflammation. Diagnosis is based on enzymatic assays, genetic testing, and neuroimaging. Management is supportive, with enzyme replacement therapy improving systemic but not central nervous system manifestations; prognosis is poor in the neuropathic form.