Gaucher disease is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme defi ciency, resulting in accumulation of glucocerebroside in all organs. The diagnosis is established by measuring enzyme activity. Among the clinical forms, type 2 is the rarest and has the most dismal prognosis. We present the case of an infant...

Both Gaucher disease patients and heterozygous glucocerebrosidase mutation carriers are at increased risk of Parkinson's disease. Retinal thinning has been reported in early Parkinson's disease. Here we used optical coherence tomography to demonstrate thinning of the retinal ganglion cell layer in Gaucher disease patients and carriers who manifest clinical markers of potential early neurodegene...

This data article presents a dataset of total, oligomeric alpha-synuclein and hemoglobin levels in plasma of drug-naïve PD patients and controls. This is the first attempt to assess the effect of hemolysis rate on oligomeric alpha-synuclein levels in peripheral plasma. The data are associated with the research article "Oligomeric alpha-synuclein and glucocerebrosidase activity levels in GBA-ass...

The synucleinopathies are neurodegenerative disorders defined by inclusions composed of aberrantly fibrillized alpha-synuclein, but factors contributing to this process remain largely unknown. The authors examined the glucocerebrosidase gene in 75 autopsy specimens with different synucleinopathies and identified mutations in 23% of cases of dementia with Lewy bodies, expanding on previous findi...

Glucocerebrosidase and ceramidetrihexoside-alpha-galactosidase were obtained in a high degree of purity from human placental tissue. The enzymes were infused in Gaucher and Fabry patients, respectively. Following the administration of the proteins to supplement the genetically determined deficiencies, there resulted a specific reduction in the accumulated hlycolipids in the circulation and live...

Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. We are reporting two interesting cases of type 1 non-neuropathic and type 3 juvenile s...

Although previous studies have demonstrated a crucial role for the enzyme b -glucocerebrosidase (GlcCer’ase) in the final steps of membrane structural maturation in mammalian stratum cornuem (SC) and epidermal homeostasis, the precise in vivo localization of GlcCer’ase activity and protein is not known. Here, we developed a fluorogenic in situ assay on histologic sections (zymography) to elucid...

To determine the frequency of mutations responsible for Gaucher's disease, we systematically sequenced the GBA1 gene as part of a molecular characterization of 73 adult patients in the United Kingdom. Five hitherto unknown pathogenic variants were identified, one of which is a splice site change; the others are novel missense mutations. Given that GBA1 gene mutations are an important risk facto...