ISSN : 2663-2187

The Spectrum of Neurological and Sensory Abnormalities in Gaucher Disease Patients

Main Article Content

Osama Roshdy Elsafy, Nahla Hassan Ahmed Gad, Raghda Mamdouh Abdelgawad, Marwa Zakaria
» doi: 10.48047/AFJBS.6.14.2024.10477-10488

Abstract

Gaucher Disease (GD) is an autosomal recessive metabolic disorder due to glucocerebro-sidase (glucosylceramidase, or acid beta glucosidase—GBA) deficiency, caused by GBA 1q21 genetic mutation. As a consequence, the glucosylceramide (or glucocerebrosidase) accumulates in the liver, the spleen, and the bone marrow endothelial reticulum cells. Gaucher disease (GD) has been increasingly recognized as a continuum of phenotypes with variable neurological and sensory involvement. No study has yet specifically explored the spectrum of neuropsychiatric and sensory abnormalities in GD patients through a multidisciplinary approach. Abnormalities involving the nervous system, including sensory abnormalities, cognitive disturbances, and psychiatric comorbidities, have been identified in GD1 and GD3 patients

Article Details