Peripheral neural response and sex hormones in type 1 Gaucher disease.

ABSTRACT:

Background

In a rare Gaucher disease, reduced activity of lysosomal b-glucocerebrosidase incompletely blocks glucosphingolipid catabolism. Accumulation of the unhydrolyzed substrate glucosylceramide within lysosomes results in progressive, multisystem Gaucher disease, classified into three types. Both parkinsonism and peripheral neuropathy are observed in cases of putative non-neuronopathic type 1 disease. In the current study we investigated whether the peripheral neural response in type 1 Gaucher disease patients, with no neural manifestations is conditioned by the influence of sex hormones.

Methods

The catalytic activity of b-glucocerebrosidase in peripheral blood leukocytes was determined spectrofluorometrically. Direct sequencing of the GBA1 gene was performed. Somatose

SUBMITTER: Lakocevic MB 

PROVIDER: S-EPMC7282237 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature