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Gauchers disease

Soo Min Cho, Ayelet Vardi, Nicolas Platt, Anthony H Futerman
Approximately 70 lysosomal storage diseases are currently known, resulting from mutations in genes encoding lysosomal enzymes and membrane proteins. Defects in lysosomal enzymes that hydrolyze sphingolipids have been relatively well studied. Gaucher disease is caused by the loss of activity of glucocerebrosidase, leading to accumulation of glucosylceramide. Gaucher disease exhibits a number of subtypes, with types 2 and 3 showing significant neuropathology. Sandhoff disease results from the defective activity of β-hexosaminidase, leading to accumulation of ganglioside GM2...
June 14, 2018: Journal of Neurochemistry
Marianna Galliani, Melissa Santi, Ambra Del Grosso, Antonella Cecchettini, Filippo M Santorelli, Sandra L Hofmann, Jui-Yun Lu, Lucia Angella, Marco Cecchini, Giovanni Signore
Polymeric nanoparticles (NPs) represent one of the most promising tools in nanomedicine and have been extensively studied for the delivery of water-insoluble drugs. However, the efficient loading of therapeutic enzymes and proteins in polymer-based nanostructures remains an open challenge. Here, we report a synthesis method for a new enzyme delivery system based on cross linked enzyme aggregates (CLEAs) encapsulation into poly(lactide-co-glycolide) (PLGA) NPs. We tested the encapsulation strategy on four enzymes currently investigated for enzyme replacement therapy: palmitoyl protein thioesterase 1 (PPT1; defective in NCL1 disease), galactosylceramidase (GALC; defective in globoid cell leukodystrophy), alpha glucosidase (aGLU; defective in Pompe disease) and beta glucosidase (bGLU; defective in Gaucher's disease)...
June 12, 2018: Bioconjugate Chemistry
Crystal M Sun, Joseph H Schwab, Francis J Hornicek
: Dr. Henry Mankin has made a profound impact in the fields of skeletal surgery and orthopaedics. In a career spanning over 50 years, Dr. Mankin conducted extensive research on and provided treatment for numerous patients with Gaucher disease and spinal disorders such as sacral chordomas. Dr. Mankin's prolific career includes many leadership positions in the field of skeletal surgery, including Chief of Orthopaedics at the Hospital for Joint Diseases and at Massachusetts General Hospital. He has touched the lives of over 18,000 patients with bone and soft tissue tumors and undoubtedly shaped the future of skeletal surgery...
June 8, 2018: Spine
Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Heydy Bravo, Claudio Sampaio-Filho, Roberto Giugliani
We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory...
June 4, 2018: Genetics and Molecular Biology
Chia-Yi Chin, Chien-Ting Hsu, Chee-Seng Lee, Yin-Hsiu Chien, Jia-Feng Wu
No abstract text is available yet for this article.
May 12, 2018: Pediatrics and Neonatology
Sruti Rayaprolu, Yasin B Seven, John Howard, Colin Duffy, Marcelle Altshuler, Christina Moloney, Benoit I Giasson, Jada Lewis
Loss-of-function mutations in ATP13A2 are associated with three neurodegenerative diseases: a rare form of Parkinson's disease termed Kufor-Rakeb syndrome (KRS), a lysosomal storage disorder termed neuronal ceroid lipofuscinosis (NCL), and a form of hereditary spastic paraplegia (HSP). Furthermore, recent data suggests that heterozygous carriers of mutations in ATP13A2 may confer risk for the development of Parkinson's disease, similar to the association of mutations in glucocerebrosidase (GBA) with both Parkinson's disease and Gaucher's disease, a lysosomal storage disorder...
May 31, 2018: Molecular and Cellular Neurosciences
Lucy M Collins, Caroline H Williams-Gray, Elizabeth Morris, Patrick Deegan, Timothy M Cox, Roger A Barker
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 cognitive 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 with GBA heterozygote mutations...
May 29, 2018: Journal of Neurology
Jennifer A Ruskey, Lior Greenbaum, Léanne Roncière, Armaghan Alam, Dan Spiegelman, Christopher Liong, Oren A Levy, Cheryl Waters, Stanley Fahn, Karen S Marder, Wendy Chung, Gilad Yahalom, Simon Israeli-Korn, Vered Livneh, Tsvia Fay-Karmon, Roy N Alcalay, Sharon Hassin-Baer, Ziv Gan-Or
BACKGROUND: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD), and are especially prevalent in the Ashkenazi Jewish (AJ) population. However, most studies on GBA in AJ genotype only seven selected Gaucher-associated pathogenic variants rather than sequencing the whole gene, which may leave carriers of PD-associated GBA variants undiscovered. METHODS: GBA was fully sequenced using molecular inversion probes (MIPs) and Sanger sequencing in 735 AJ PD patients and 662 AJ controls, from Israel and New York...
May 26, 2018: European Journal of Medical Genetics
Shoshana Revel-Vilk, Jeff Szer, Atul Mehta, Ari Zimran
Treatment of Gaucher Disease (GD) is now beset with the abundance of therapeutic options for an individual patient, making the choice of therapy complex for both expert and non-expert clinicians. The pathogenesis of all disease manifestations is a gene mutation-driven deficiency of glucocerebrosidase, but the clinical expression and response of each of the clinical manifestations to different therapies can be difficult to predict. Enzyme replacement therapy has been available since 1991 and is well-established, with known efficacy and minimal toxicity...
May 29, 2018: British Journal of Haematology
Yongpan Huang, Langmei Deng, Yanjun Zhong, Minhan Yi
It is reported that both the homozygous and heterozygous states of GBA mutations which are the causes of Gaucher disease (GD) are linked to the risk of PD. However, the GBA variant p.E326K (c.1093G > A, rs2230288), which does not result in GD in homozygous carriers, has triggered debate among experts studying Parkinson's disease (PD). In order to determine if the E326K variant of GBA is associated with the risk of PD, a standard meta-analysis was conducted by searching and screening publications, data extraction, and statistical analysis...
2018: Parkinson's Disease
Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly
As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at, also available in gnomAD at We estimate that 34% of protein-coding alleles present in the Ashkenazi Jewish population at frequencies greater than 0...
May 2018: PLoS Genetics
Emily Contrada
No abstract text is available yet for this article.
June 2018: American Journal of Nursing
Avner Thaler, Noa Bregman, Tanya Gurevich, Tamara Shiner, Yonatan Dror, Ofir Zmira, Ziv Gan-Or, Anat Bar-Shira, Mali Gana-Weisz, Avi Orr-Urtreger, Nir Giladi, Anat Mirelman
OBJECTIVE: Mutations in the glucocerebrosidase (GBA) gene are divided into mild and severe (mGBA, sGBA) based on their contribution to the phenotype of Gaucher disease (GD) among homozygotes. We conducted a longitudinal analysis of Parkinson's disease (PD) patients carrying mutations in the GBA gene to better characterize genotype-phenotype correlations. METHODS: Patients underwent a comprehensive assessment of medical, neurological, cognitive and non-motor functions...
May 17, 2018: Parkinsonism & related Disorders
A Keshavaraj, L Gajalakshan
No abstract text is available yet for this article.
March 31, 2018: Ceylon Medical Journal
Erika R Vucko
How advances in screening, diagnosis, and treatment affect patient care. ABSTRACT: Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid β-glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. Gaucher disease is clinically classified into one of three phenotypes, depending on the absence or presence of neurodegenerative disease and the rate of disease progression...
May 11, 2018: American Journal of Nursing
Mindy Li
Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders caused by defects in lysosomal function that lead to multiorgan system damage. Due to wide clinical variability within even a single disorder, making a diagnosis can be difficult and identification may be delayed. Enzyme replacement therapy (ERT) was first approved as a treatment for the LSD Gaucher disease in 1991. ERT development for other LSDs followed, and ERT is currently approved for eight LSDs in the United States. ERT may help slow progression and improve clinical symptoms, but it cannot affect neurologic features due to its inability to cross the blood-brain barrier...
May 1, 2018: Pediatric Annals
MSoledad Noya, Marcio Andrade-Campos, Pilar Irun, Laura López de Frutos, MFernanda López-Fernandez, Pilar Giraldo
Report a female diagnosed as type 1 Gaucher disease after a femoral pathologic fracture when she was 55 years old. Enzyme replacement therapy was started, and she achieved therapeutic goals. In 2015, a Ph' CML with numerous pseudo-Gaucher cells in bone marrow appears. BCR/ABL was not present at GD diagnosis.
May 2018: Clinical Case Reports
Luke Chen, G Michael Halmagyi
Bilateral vestibulopathy (BVP), which is due to peripheral lesions, may selectively involve certain semicircular canal (SCC). Recent eye movement recordings with search coil and video head impulse test (HIT) have provided insight in central lesions that can cause bilateral and selective SCC deficit mimicking BVP. Since neurological signs or ocular motor deficits maybe subtle or absent, it is critical to recognize central lesions correctly since there is prognostic and treatment implication. Acute floccular lesions cause bilateral horizontal SCC (HC) impairment while leaving vertical SCC function unaffected...
2018: Frontiers in Neurology
Lunawati L Bennett, Chris Fellner
The clinical manifestations of Gaucher disease, a rare genetic lysosomal storage disorder, are debilitating, and the neuronopathic forms of the disease are fatal. The authors describe the current and investigational therapies for treatment.
May 2018: P & T: a Peer-reviewed Journal for Formulary Management
Elaine A Liu, Andrew P Lieberman
The lysosomal storage disorders (LSDs) encompass a group of more than 50 inherited diseases characterized by the accumulation of lysosomal substrates. Two-thirds of patients experience significant neurological symptoms, but the mechanisms of neurodegeneration are not well understood. Interestingly, a wide range of LSDs show defects in both autophagy and Ca2+ homeostasis, which is notable as Ca2+ is a key regulator of autophagy. The crosstalk between these pathways in the context of LSD pathogenesis is not well characterized, but further understanding of this relationship could open up promising therapeutic targets...
April 25, 2018: Neuroscience Letters
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