Glucosylsphingosine is a reliable response biomarker in Gaucher disease
American Journal of Hematology, EarlyView.
Gaucher disease (GD) is one of the most common lysosomal storage diseases resulting from a deficiency of glucocerebrosidase. Three main types have been described, with type 2 being the most rare and severe form. Here we investigated the clinical symptoms and mutation spectrum in 20 unrelated type 2 GD patients.
This article is protected by copyright. All rights reserved. PMID: 29920646 [PubMed - as supplied by publisher]
Publication date: Available online 14 June 2018 Source:Molecular Genetics and Metabolism Author(s): Matthew C. Reed, Capucine Schiffer, Simon Heales, Atul B. Mehta, Derralynn A. Hughes Gaucher disease (GD) is an inherited disorder in which mutations in the GBA1 gene lead to deficient β-glucocerebrosidase activity and accumulation of its substrate glucosylceramide. Bone disease is present in around 84% of GD patients, ranging from bone loss including osteopenia and osteonecrosis to abnormal bone remodelling in the form of Erlenmeyer flask formation. The range of severity and variety of types of bone disease found in G...
This study suggests that heterozygous loss-of-function mutations in ATP13A2 are likely harmful and indicates that glial involvement in the disease process may be an early event that positions the CNS for subsequent disease development.
Gaucher disease (GD) is a sphingolipid storage disease, that is caused due to a deficiency in β-glucocerebrosidase (EC 220.127.116.11, acid β-glucosidase, GBA) activity. A deficiency in GBA activity leads to the accumulation of glucocerebroside in macrophages (Gaucher cells) in the bone marrow, liver, spleen, and brain. Children affected with GD show the symptoms of a failure to thrive, thromboc ytopenia, anemia, and hepatosplenomegaly. Enzyme replacement therapy (ERT) with recombinant human GBA (rhGBA) can reduce hepatosplenomegaly, increase hemoglobin level and platelet count, and increase bone mineral density.
In this study, we found that E326K of GBA is associated with the risk of PD in total populations, Asians, and Caucasians, respectively. Further studies are needed to clarify the role of GBA in the pathogenesis of PD. PMID: 29808112 [PubMed]
PMID: 29794922 [PubMed - in process]
British Journal of Haematology, EarlyView.
We report the cognitive features and progression of Parkinson ’s disease (PD) in five patients with concurrent Gaucher disease. The patients presented at an earlier age than patients with sporadic PD, as previously noted by others; but in contrast to many previous reports, our patients followed a variable clinical course. While two patients developed early c ognitive deficits and dementia, three others remained cognitively intact over the follow-up period. Thus, in this small case series, PD in the context of GD more closely resembles idiopathic PD in terms of its clinical heterogeneity in contrast to PD associated w...