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• W3097713978 abstract "Gaucher disease is one of the most prevalent hereditary lipid storage disorders in humans. Patients are classified into three phenotypes depending on whether the central nervous system (CNS) is involved and on the age of onset of clinical manifestations. This autosomal recessive disorder is caused by mutations in the GBA1 gene leading to insufficient activity of the hydrolase glucocerebrosidase. This results in accumulation of glucocerebroside in macrophages, and in some cases, in cells of the CNS. The systemic manifestations of the disease are hepatosplenomegaly, anemia, thrombocytopenia and destructive skeletal disease. The neurological manifestations consist of supranuclear gaze palsy, variable cognitive dysfunction, movement disorders and sometimes a progressive myoclonic encephalopathy. Glucocerebrosidase activity in peripheral blood white cells and identification of GBA1 mutations confirm the diagnosis. Current research is focused on correcting the primary metabolic defect in the CNS and understanding the pathogenesis of the disease. The latter will likely lead to therapeutic approaches designed to counteract the downstream effects of glucocerebrosidase deficiency." @default.
• W3097713978 created "2020-11-09" @default.
• W3097713978 creator A5001000588 @default.
• W3097713978 date "2015-01-01" @default.
• W3097713978 modified "2023-09-23" @default.
• W3097713978 title "Chapter 26 – Gaucher Disease: Neuronopathic Forms" @default.
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