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'Neuronopathic'forms (Erikson et al 1997; Patterson et al 1993) are the rarest variants of Gaucher disease, with an estimated incidence of< 1 in 100,000 live births (Beutler and Grabowski 1995). The neuronopathic forms, like other Gaucher disease variants, are pan-ethnic, although a particularly high prevalence of neurological involvement has been documented among patients in Northern Sweden (Erikson 1986) in Poland (Tylki-Szymanska et al 1996) and in the Jenin Arab population (abrahamov et al 1995).)

The management of neuronopathic Gaucher disease is fraught with difficulty. There is a lack of standard assessment protocols, and this, together with treating physicians' varying access to technoloy and degree of experience, has resulted in wide variations in clinical practice. This is reflected in reported results. The role on enzyme replacement therapy in the treatment of neuronopathic Gaucher disease is …