ArticleJournal of medical biochemistry2020
Peripheral neural response and sex hormones in type 1 Gaucher disease.
Article in Journal of medical biochemistry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 1 citations in OpenAlex.
- Physiopathological Role of Neuroactive Steroids in the Peripheral Nervous System.International journal of molecular sciences · 2020Review
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn 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.
methodsThe catalytic activity of b-glucocerebrosidase in peripheral blood leukocytes was determined spectrofluorometrically. Direct sequencing of the GBA1 gene was performed. Somatosensory evoked potentials were recorded after electrical stimulation of the median nerve of both arms. Stimuli of 0.2 ms duration at a frequency of 5 Hz were used. Sex hormones were determined by radioimmunoassay using a gamma scintillation counter.
resultsAnalysis of the somatosensory evoked potentials revealed significant differences in peak latencies on periphery between men and women in both control and type 1 Gaucher disease groups. Analysis by gender showed significant associations between latencies and sex hormones only in female patients: negative correlation between oestradiol concentration and N9 peak latency, and a strong negative correlation of testosterone levels with all peak latencies on the periphery (N9-N13).
conclusionsA relationship between testosterone concentrations and the latencies of potentials evoked on peripheral nerves exists only in females with type 1 Gaucher disease. We point out sexual dimorphism in the development of this entity.
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