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Gaucher disease is particularly prevalent among Ashkenazi Jews; thus most studies have been reported on this ethnic group. We present the first data on Spanish patients with Gaucher disease and provide one of the first reports on a fairly well defined, large, non-Jewish population. Eight mutations were analyzed in 35 patients, with different clinical subtypes, by restriction enzyme digestion or allele-specific oligonucleotide (ASO) hybridization, after PCR amplification of genomic DNA. Analysis of the eight mutations allowed identification of 77.2% of the disease alleles, N370S and L444P alone accounting for 70%. Mutation N370S, carried by 31 alleles (44.3%), appeared to be the most prevalent in the Spanish population. The frequency of this mutation and of the N370S/N370S genotype is closer to those described for Ashkenazi Jews than to the frequencies found in other non-Jewish populations. Mutation L444P, the second most abundant mutation, occurred in 25.7% of the disease alleles. Four alleles carrying mutation D409H (5.7%) were detected in patients of different clinical expression and one RecNciI allele in a type I patient. Mutations 84GG, IVS2 + 1, R463C, and RecTL were also screened but were not found in any of our patients.

beta-Glucosidase-stimulating proteins have been purified from human brain. One of these proteins also activated oligosaccharide sialidase activity in fibroblasts from galactosialidosis and sialidosis patients and in control cells but was not able to stimulate residual sialidase from I-cell disease fibroblasts. Activation was observed with either sialyl-oligosaccharides and -glycoproteins or the artificial substrate MU-NANA. The activator did not stimulate ganglioside sialidase from control and mucolipidosis IV fibroblasts. Column chromatography, polyacrylamide electrophoresis or desialylation treatment of the activator did not achieve separation of the stimulating abilities toward beta-glucosidase and sialidase.