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Gaucher disease type 2

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https://www.readbyqxmd.com/read/28263001/assessment-of-bone-health-in-patients-with-type-1-gaucher-disease-using-impact-microindentation
#1
Sabina Herrera, Jordi Pérez-López, Marc Moltó-Abad, Roberto Güerri-Fernández, Elena Cabezudo, Silvana Novelli, Jordi Esteve, Albert Hernández, Inmaculada Roig, Xavier Solanich, Daniel Prieto-Alhambra, Xavier Nogués, Adolfo Díez-Pérez
BACKGROUND: Gaucher disease (GD), one of the commonest lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta-glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up to 80% of patients, even if asymptomatic. Bone disorder remains the main cause of morbidity in these patients, along with osteoporosis, avascular necrosis, and bone infarcts. Enzyme replacement therapy (ERT) has been shown to improve these symptoms. METHODS: This cross-sectional study included patients with type 1 Gaucher disease (GD1) selected from the Catalan Study Group on GD...
March 6, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28218669/a-review-of-gaucher-disease-pathophysiology-clinical-presentation-and-treatments
#2
REVIEW
Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, Christine Serratrice, Roseline Froissart, Catherine Caillaud, Thierry Levade, Leonardo Astudillo, Jacques Serratrice, Anaïs Brassier, Christian Rose, Thierry Billette de Villemeur, Marc G Berger
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells...
February 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28171725/fluorinated-chaperone-%C3%AE-cyclodextrin-formulations-for-%C3%AE-glucocerebrosidase-activity-enhancement-in-neuronopathic-gaucher-disease
#3
M Isabel García-Moreno, Mario de la Mata, Elena M Sánchez-Fernández, Juan M Benito, Antonio Díaz-Quintana, Santos Fustero, Eiji Nanba, Katsumi Higaki, José A Sánchez-Alcázar, José M García Fernández, Carmen Ortiz Mellet
Amphiphilic glycomimetics encompassing a rigid, undistortable nortropane skeleton based on 1,6-anhydro-l-idonojirimycin and a polyfluorinated antenna, when formulated as the corresponding inclusion complexes with β-cyclodextrin (βCD), have been shown to behave as pharmacological chaperones (PCs) that efficiently rescue lysosomal β-glucocerebrosidase mutants associated with the neuronopathic variants of Gaucher disease (GD), including the highly refractory L444P/L444P and L444P/P415R single nucleotide polymorphs, in patient fibroblasts...
February 22, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28167660/eliglustat-maintains-long-term-clinical-stability-in-patients-with-gaucher-disease-type-1-stabilized-on-enzyme-therapy
#4
Timothy M Cox, Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow, Ana Maria Martins, Elena Lukina, Barry Rosenbloom, Ozlem Goker-Alpan, Nora Watman, Amal El-Beshlawy, Priya S Kishnani, Maria Lucia Pedroso, Sebastiaan J M Gaemers, Regina Tayag, M Judith Peterschmitt
In the phase 3 trial of eliglustat in patients with Gaucher disease type 1 already stabilized with enzyme therapy (ENCORE), at one year, eliglustat was non-inferior to imiglucerase enzyme therapy in maintaining stable platelet counts, hemoglobin concentrations, and spleen and liver volumes. After this primary analysis period, patients entered a long-term extension phase in which all received eliglustat. Duration on eliglustat ranged from 2 to 5 years, depending on timing of enrollment (which spanned 2 years), treatment group to which patients were randomized, and whether they lived in the United States when commercial eliglustat became available...
February 6, 2017: Blood
https://www.readbyqxmd.com/read/28040394/long-term-hematological-visceral-and-growth-outcomes-in-children-with-gaucher-disease-type-3-treated-with-imiglucerase-in-the-international-collaborative-gaucher-group-gaucher-registry
#5
Amal El-Beshlawy, Anna Tylki-Szymanska, Ashok Vellodi, Nadia Belmatoug, Gregory A Grabowski, Edwin H Kolodny, Julie L Batista, Gerald F Cox, Pramod K Mistry
In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the fulminant neuronopathic form, and type 3 [GD3], the milder chronic neuronopathic form). Enzyme replacement therapy (ERT) with imiglucerase ameliorates and prevents hematological and visceral manifestations in GD1, but data in GD3 are limited to small, single-center series...
December 6, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28029576/could-enzyme-replacement-therapy-promote-immune-tolerance-in-gaucher-disease-type-1
#6
Marina Cadena Matta, Filippo Vairo, Leuridan Cavalcante Torres, Ida Schwartz
Among the lysosomal storage disorders, Gaucher disease (GD) features some of the most striking alterations in the immune system, including increased levels of cytokines and chemokines. Although studies have demonstrated the efficacy of enzyme replacement therapy (ERT) for GD, the ideal dosage remains controversial. In this study, we report differences in levels of cytokines (IL-6, TNF-a, and IFN-y) and chemokines (IL-8, IP-10, and MCP-1) in patients with GD type 1 treated with different ERT dosages and treatment durations...
October 24, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28012701/assessment-of-the-liver-and-spleen-in-children-with-gaucher-s-disease-type-i-with-diffusion-weighted-mr-imaging
#7
Ahmed Abdel Khalek Abdel Razek, Ahmed Abdalla, Tarik Barakat, Heba El-Taher, Khadiga Ali
PURPOSE: To assess hepatic and splenic apparent diffusion coefficient (ADC) in children with Gaucher's disease type I with diffusion-weighted MR imaging and to correlate hepatic and splenic ADC with parameters of disease severity. SUBJECTS AND METHODS: Prospective study was conducted upon 25 children (11 treated and 14 untreated) with Gaucher's disease and 12 age and sex matched control children. They underwent diffusion-weighted MR imaging of abdomen. Hepatic and splenic ADC and volume were calculated...
December 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27922757/hemophagocytic-lymphohistiocytosis-triggered-by-gaucher-disease-in-a-preterm-neonate
#8
Simone Schüller, Andishe Attarbaschi, Angelika Berger, Caroline Hutter, Katrin Klebermass-Schrehof, Manuel Steiner
OBJECTIVE: To present the diagnostic workup in an extremely low birth weight infant patient with signs of both sepsis and hemophagocytosis. PARTICIPANTS: A preterm infant presented with clinical and laboratory signs of early-onset sepsis including hepatosplenomegaly, thrombocytopenia, direct hyperbilirubinemia, and elevated liver enzymes. METHODS: Despite extensive septic workup, no underlying infection was detected. Additional hyperferritinemia and other elevated inflammatory parameters raised the suspicion of a primary or secondary hemophagocytic lymphohistiocytosis (HLH)...
October 2016: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/27905603/pathological-levels-of-glucosylceramide-change-the-biophysical-properties-of-artificial-and-cell-membranes
#9
Ana R P Varela, Ana E Ventura, Ana C Carreira, Aleksander Fedorov, Anthony H Futerman, Manuel Prieto, Liana C Silva
Glucosylceramide (GlcCer) plays an active role in the regulation of various cellular events. Moreover, GlcCer is also a key modulator of membrane biophysical properties, which might be linked to the mechanism of its biological action. In order to understand the biophysical implications of GlcCer on membranes of living cells, we first studied the effect of GlcCer on artificial membranes containing 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine (POPC), sphingomyelin (SM) and cholesterol (Chol). Using an array of biophysical methods, we demonstrate that at lower GlcCer/Chol ratios, GlcCer stabilizes SM/Chol-enriched liquid-ordered domains...
December 21, 2016: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/27866810/histological-characterisation-of-visceral-changes-in-a-patient-with-type-2-gaucher-disease-treated-with-enzyme-replacement-therapy
#10
Yuko Tezuka, Mitsumasa Fukuda, Shohei Watanabe, Takeshi Nakano, Kentaro Okamoto, Kazuyo Kuzume, Yoshiaki Yano, Mariko Eguchi, Minenori Ishimae, Eiichi Ishii, Tatsuhiko Miyazaki
Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase and accumulation of glucocerebroside. Three major sub-types have been described, type 2 is an acute neurological form that exhibits serious general symptoms and poor prognosis, compared with the other types. This case was a girl diagnosed with type 2 Gaucher disease at 12months of age who presented with poor weight gain from infancy, stridor, hypertonia, hepatosplenomegaly, trismus and an eye movement disorder. Enzyme replacement therapy (ERT) was administered, but she had frequent myoclonus and developmental regression...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27865684/clinical-and-molecular-characteristics-of-patients-with-gaucher-disease-in-southern-china
#11
Yuyu Feng, Yonglan Huang, Chengfang Tang, Hao Hu, Xiaoyuan Zhao, Huiying Sheng, Wen Zhang, Minyi Tan, Ting Xie, Jipeng Zheng, Zongcai Liu, Xueying Su, Yongxian Shao, Xiuzhen Li, Jing Cheng, Xiaojian Mao, Li Liu
Gaucher disease (GD) is a common lysosomal storage disorder caused by the deficiency of acid β-glucosidase, due to mutations in the GBA gene. To explore the clinical and molecular characteristics of GD patients from Southern China, GBA gene were analyzed by nest PCR and direct Sanger-sequencing. Novel missense mutations were transiently transfected in COS-7 cells by plasmid system for functional verification. Among the 22 GD patients, 19 patients were classified as type 1 and three as type 2. Over 60% of the type 1 patient had the onset before two years of age and about 42% of them died before three years of age...
November 3, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27859541/ambroxol-effects-in-glucocerebrosidase-and-%C3%AE-synuclein-transgenic-mice
#12
Anna Migdalska-Richards, Liam Daly, Erwan Bezard, Anthony H V Schapira
OBJECTIVE: Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase. Both homozygous and heterozygous glucocerebrosidase 1 mutations confer an increased risk for developing Parkinson disease. Current estimates indicate that 10 to 25% of Parkinson patients carry glucocerebrosidase 1 mutations. Ambroxol is a small molecule chaperone that has been shown to increase glucocerebrosidase activity in vitro. This study investigated the effect of ambroxol treatment on glucocerebrosidase activity and on α-synuclein and phosphorylated α-synuclein protein levels in mice...
November 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27836528/aberrant-bone-marrow-vascularization-patterns-in-untreated-patients-with-gaucher-disease-type-1
#13
Monika Klimkowska, Maciej Machaczka, Jan Palmblad
Bone marrow (BM) in subjects with Gaucher disease (GD) displays accumulation of Gaucher cells (GC), i.e. glucocerebroside-laden macrophages. Following the assumption that macrophage proliferation and perturbation in GD modulates local inflammation-associated phenomena including angiogenesis, BM biopsies from 11 untreated GD patients and 36 controls were investigated for morphology and angiogenesis-associated features. These included microvascular density, (MVD), vessel structure and pericyte coverage, expression of VEGF-A and angiopoietins (ANGPT1 and 2)...
October 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27816428/ferritinemia-and-serum-inflammatory-cytokines-in-swedish-adults-with-gaucher-disease-type-1
#14
Fryderyk Lorenz, Ewa Pawłowicz, Monika Klimkowska, Soheir Beshara, Agnes Bulanda Brustad, Aleksander B Skotnicki, Anders Wahlin, Maciej Machaczka
BACKGROUND: The storage of glucosylceramide in macrophages produces an inflammatory response in Gaucher disease type 1 (GD1) resulting in iron metabolism dysregulation and cytokine release. PATIENTS AND METHODS: The study included 16 adults with GD1 aged 20-86years. All but one patient carried at least one allele with the c.1226A>G (N370S) mutation in the GBA1 gene. Ferritinemia, iron metabolism profiles including hepcidin, and inflammatory cytokine concentrations were assessed in GD1 patients in Sweden...
October 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27816427/causes-of-death-in-184-patients-with-type-1-gaucher-disease-from-the-united-states-who-were-never-treated-with-enzyme-replacement-therapy
#15
Neal J Weinreb, Deborah S Barbouth, Robert E Lee
Treatment for type 1 Gaucher disease (GD1) decreases morbidity from hematological cytopenias, hepatosplenomegaly and bone complications. Consequently, untreated symptomatic patients for study of late outcomes are hard to find. We identified 184 untreated GD1 patients (67.4% Ashkenazi; splenectomy 51.1%) who died between 1950 and 2010. Here, we report confirmed causes of death for these patients compared with the overall US population. Median age of death 66years (2-97years); causes of death (COD) with a high proportional mortality rate (PMR) included malignancies (PMR 1...
October 24, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27734818/-late-diagnosis-of-gaucher-s-disease-care-reports
#16
Monika Dyczko, Anna Grzywa-Celińska, Wojciech Barud, Rafał Celiński, Wojciech Dworzański, Katarzyna Szmygin-Milanowska, Jerzy Mosiewicz
Gaucher's disease if one of the most frequent, among extremely rare, lysosomal storage diseases. It is the autosomal recessive inherited metabolic disorder, which can present in three main clinical forms. Type 1 - the most benign, in a not-neuropathic form, and types 2 and 3, both in neuropathic form, which manifest serious neurological symptoms. AIM: The aim of the study was to draw attention to the late diagnosing of Gaucher's disease in the Polish population and to popularize the knowledge about this ultra-rare disease...
July 29, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27717005/specifically-neuropathic-gaucher-s-mutations-accelerate-cognitive-decline-in-parkinson-s
#17
Ganqiang Liu, Brendon Boot, Joseph J Locascio, Iris E Jansen, Sophie Winder-Rhodes, Shirley Eberly, Alexis Elbaz, Alexis Brice, Bernard Ravina, Jacobus J van Hilten, Florence Cormier-Dequaire, Jean-Christophe Corvol, Roger A Barker, Peter Heutink, Johan Marinus, Caroline H Williams-Gray, Clemens R Scherzer
OBJECTIVE: We hypothesized that specific mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non-neuropathic GD mutations confer intermediate progression rates. METHODS: A total of 2,304 patients with PD and 20,868 longitudinal visits for up to 12.8 years (median, 4.1) from seven cohorts were analyzed. Differential effects of four types of genetic variation in GBA on longitudinal cognitive decline were evaluated using mixed random and fixed effects and Cox proportional hazards models...
November 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27648471/gba-p-t369m-substitution-in-parkinson-disease-polymorphism-or-association-a-meta-analysis
#18
Victoria Mallett, Jay P Ross, Roy N Alcalay, Amirthagowri Ambalavanan, Ellen Sidransky, Patrick A Dion, Guy A Rouleau, Ziv Gan-Or
The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have an increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, and autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced in the peripheral blood(2) and brain(3) of noncarrier, sporadic PD patients. Biallelic GBA mutations, which have been classified as "severe" or "mild," may cause Gaucher disease (GD), a lysosomal storage disorder...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27574779/evaluation-of-bone-mineral-density-in-patients-with-type-1-gaucher-disease-in-argentina
#19
M S Larroudé, G Aguilar, I Rossi, G Drelichman, N Fernandez Escobar, N Basack, M Slago, A Schenone, A Fynn, M F Cuello, R Fernandez, A Ruiz, P Reichel, N Guelbert, H Robledo, N Watman, M Bolesina, G Elena, S E Veber, G Pujal, G Galvan, J J Chain, A Arizo, J Bietti, M Aznar, M Dragosky, M Marquez, L Feldman, K Muller, S Zirone, G Buchovsky, V Lanza, I Fernandez, R Jaureguiberry, M A Barbieri, A Maro, G Zarate, G Fernandez, M Rapetti, A Degano, G Kantor, A Albina, M Alvarez Bollea, H Arrocena, V Bacciedoni, F Del Rio
The purpose of this study was to evaluate the frequency of osteoporosis (OP) in patients with Gaucher disease (GD) in Argentina. GD patients from 28 centers were consecutively included from April 2012 to 2014. Bone mineral density (BMD) was determined by dual X-ray absorptiometry in the lumbar spine and the femoral neck or the total proximal femur for patients ≥20 yr of age, and by whole-body scan in the lumbar spine in patients <20 yr of age. In children, mineral density was calculated using the chronological age and Z height...
August 26, 2016: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/27559188/enzyme-replacement-or-substrate-reduction-a-review-of-gaucher-disease-treatment-options
#20
Alison Van Rossum, Megan Holsopple
BACKGROUND: Gaucher disease is a rare lysosomal storage disease resulting from a deficiency or reduced activity in the acid β-glucocosidase enzyme. Only 1 treatment option was available for 15 years, but several new treatment options have come to market since 2003. OBJECTIVE: The article will detail the pathophysiology and review current therapies in the literature for all 3 major clinical types of Gaucher disease, with a focus on considerations for selecting therapy in type 1 disease...
July 2016: Hospital Pharmacy
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