Glucosylsphingosine is a reliable response biomarker in Gaucher disease
American Journal of Hematology, EarlyView.
ConclusionA rare case of Gaucher disease is reported here to emphasize the importance of early recognition by clinical manifestation and histological findings. Gaucher disease should be considered in the differential diagnosis of children with unexplained symptoms of multiple systems.
We report a patient with GD type 1 who was diagnosed with corticobasal syndrome (CBS), a clinical atypical parkinsonism diagnosis, in his sixth decade of life. Our case highlights the need to consider forms of atypical parkinsonism such as CBS in addition to PD in the differential diagnosis of cognitive and motor changes in patients with GD type 1. We also recommend careful assessment and routine monitoring of cognition, mood, behavior, sleep patterns, olfaction, and memory in patients with GD type 1 to identify early symptoms indicative of neurological involvement.
AbstractTay-Sachs disease (TSD) is a lethal lysosomal storage disease (LSD) caused by mutations in theHexA gene, which can lead to deficiency of β-hexosaminidase A (HexA) activity and consequent accumulation of its substrate, GM2 ganglioside. Recent reports that progranulin (PGRN) functions as a chaperone of lysosomal enzymes and its deficiency is associated with LSDs, including Gaucher disease and neuronal ceroid lipofuscinosis, prompted u s to screen the effects of recombinant PGRN on lysosomal storage in fibroblasts from 11 patients affected by various LSDs, which led to the isolation of TSD in which PGRN demonstra...
Publication date: Available online 18 October 2018Source: Blood Cells, Molecules, and DiseasesAuthor(s): Rodrigo Tzovenos Starosta, Filippo Pinto e Vairo, Alícia Dorneles Dornelles, Carlos Thadeu Schmidt Cerski, Mario Reis Álvares-da-Silva, Ida Vanessa Doederlein Schwartz
In this study, the primary causes of such an increase in binding affinity were analyzed using protein–ligand docking and molecular dynamics simulations. We found that the activity cliff between α-1-C-heptyl-DAB and α-1-C-octyl-DAB was due to the shape and size of the hydrophobic binding site accommodating the alkyl chains, and that the interaction with this hydrophobic site controlled the binding affinity of the ligands well. Furthermore, based on the aromatic/hydrophobic properties of the binding site, a 7-(tetralin-2-yl)-heptyl-DAB compound was designed and synthesized. This compound had sig...
We report three cases of GD with previously undescribed brain MRI changes mainly affecting the thalami and/or the dentate nuclei. We discuss the possible etiopathogenesis of these abnormalities. Correlation between brain MRI abnormalities, neurological symptoms, and treatment efficacy is still unclear.
Human Gene Therapy, Ahead of Print.
Condition: Primary Disease Intervention: Drug: VPRIV Sponsor: Shaare Zedek Medical Center Recruiting
ConclusionCompared with that of the HCs, the efficiency of the brain functional network in the children with type 1 GD was disrupted, and regional involvement was located in motor- and sensory-related regions. The efficiency of the brain functional network in these patients remained stable over time.
Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells ’ lysosomes. A beta-Glucosidase (GBA) gene defect results in g...