The Role of Neurogenetics in Gaucher Disease

Clinical and genetic characteristics of Korean patients with Gaucher disease

“…Diagnosis was based on standard diagnostic Blood Cells, Molecules, and Diseases 46 (2011) [11][12][13][14] criteria [1][2][3], and included a glucocerebrosidase enzyme activity test employing fluorescence-activated cell sorter analysis. Patients were clinically categorized into 3 major phenotypic subtypes based on age of onset and symptoms related to central nervous system involvement, as follows: 14 patients were type 1, nonneuronopathic; 8 were type 2, acute neuronopathic; and 14 were type 3, subacute neuronopathic.…”

“…Patients were clinically categorized into 3 major phenotypic subtypes based on age of onset and symptoms related to central nervous system involvement, as follows: 14 patients were type 1, nonneuronopathic; 8 were type 2, acute neuronopathic; and 14 were type 3, subacute neuronopathic. Type 3 patients were further classified into 6 with subtype 3A, manifested by myoclonic seizure, and 8 with subtype 3B, manifested by ocular motor apraxia [11].…”

Uncomplicated outcome after anesthesia for pediatric patients with Gaucher disease

“…Types II and III, the neuronopathic forms, are relatively rare and panethnic, 3 with the minimal neurological component common to both types being horizontal supranuclear gaze palsy.…”

Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease: implications for neuronal loss in Gaucher disease

“…Patients with Gaucher disease type I usually present with hepatosplenomegaly and bone disease, but do not have central nervous system symptoms. Patients with Gaucher disease type II or type III have additional neurological symptoms, which may lead to neurodegeneration in infancy or take an intermediate course (Conradi et al, 1984;Brady et al, 1993). The characteristics of the neuronopathic forms include extensive neuronal loss in the anterior horn, basal ganglia, pons, medulla, cerebellum, and hypothalamus, and an increased concentration of glucosylceramide and glucosylsphingosine in the cerebral cortex and cerebellum (Grafe et al, 1988;Orvisky et al, 2000;Wong et al, 2004).…”