Fig. 2.

Neurological signs in Gaucher disease type 1. At enrolment, 223 of 250 patients had been classified as non-neuronopathic type 1 Gaucher disease and 27 with neuronopathic type 3 Gaucher disease. During the prospective study period, forty patients originally assigned to the type 1 disease category were subject to re-examination by a neurologist who found central nervous system signs in 15, of whom 13 had type 3 disease with clinically evident saccadic abnormalities. Of the 25 patients without clinical neurological signs, based on oculography and other clinical features, only 3 meet the criteria for reclassification as type 3 disease (X² test with Yates correction, p-value < 0.00001)