The importance of correct phenotyping in Gaucher disease.

Recently, it has been claimed that patients with Gaucher disease type 1 have subclinical neurological signs as indicated by electrophysiological measurements. These findings, if substantiated, are very significant in the management of Gaucher disease. In type 1 disease (nonneuronopathic), enzyme replacement therapy is the therapy of choice, with substantial biomedical correction achieved in most patients. In neuronopathic disease, efficacy of enzyme replacement therapy is doubtful in controlling neurological manifestations of the disease, and current consensus is that larger doses are required for type 3 patients. Clinical trials for an alternative treatment are under way. Clearly, any finding of neurological abnormalities in type 1 disease similar to those seen in type 3 disease will be a great consternation for many families and physicians. We are, however, concerned by the published data in this study. Two important issues need to be carefully clarified before these results can be accepted: (1) the questionable diagnosis of type 1 disease in this study and (2) the interpretation of their auditory brainstem response and other electrophysiological data.