Anders Erikson

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement

N-Butyldeoxynojirimycin (NB-DNJ, miglustat Zavesca) is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that accumulate pathologically in glycosphingolipidoses. Clinical trials of NB-DNJ in patients with Gauchers disease demonstrate the therapeutic potential of such substrate inhibitors in the glycolipid storage disorders. However, macrophage-targetted enzyme replacement using intravenous mannose-terminated human glucocerebrosidase (imiglucerase, Cerezyme) is highly effective in ameliorating many of the manifestations of Gauchers disease and is a treatment in widespread use. Given that imiglucerase and miglustat are now both licensed for the treatment of Gauchers disease, there is a need to review their therapeutic status. Here the treatment of type 1 (non-neuronopathic) Gaucher disease is evaluated with particular reference to the emerging role of oral N-butyldeoxynojirimycin (miglustat) as a substrate-reducing agent. This position statement represents the consensus viewpoint of an independent international advisory council to the European Working Group on Gaucher Disease.

Management of neuronopathic Gaucher disease: A European consensus

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Gaucher disease - Norrbottnian type (III) : neuropaediatric and neurobiological aspects of clinical patterns and treatment

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Management of neuronopathic Gaucher disease: Revised recommendations

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5 Neuronopathic forms of Gaucher's disease

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Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases.

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Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts

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Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease

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Free sialic acid storage (Salla) disease in Sweden

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Ataxia, autism, and the cerebellum: a clinical study of 32 individuals with congenital ataxia

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