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https://www.readbyqxmd.com/read/28540636/gm2-activator-deficiency-caused-by-a-homozygous-exon-2-deletion-in-gm2a
#1
Patricia L Hall, Regina Laine, John J Alexander, Arunkanth Ankala, Lisa A Teot, Hart G W Lidov, Irina Anselm
GM2 activator (GM2A) deficiency (OMIM 613109) is a rare lysosomal storage disorder, with onset typically in infancy or early childhood. Clinically, it is almost indistinguishable from Tay-Sachs disease (OMIM 272800) or Sandhoff disease (OMIM 268800); however, traditionally available biochemical screening tests will most likely reveal normal results. We report a 2-year-old male with initially normal development until the age of 9 months, when he presented with developmental delay and regression. Workup at that time was unrevealing; at 15 months, he had abnormal brain MRI findings and a cherry red spot on ophthalmological examination...
May 25, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28503624/temporary-efficacy-of-pyrimethamine-in-juvenile-onset-tay-sachs-disease-caused-by-2-unreported-hexa-mutations-in-the-indian-population
#2
Anaita Udwadia-Hegde, Omkar Hajirnis
BACKGROUND: Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient. PATIENT: We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented with developmental regression starting at the age of three, initially with motor followed by language regression...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28476546/infantile-gangliosidoses-mapping-a-timeline-of-clinical-changes
#3
Jeanine R Jarnes Utz, Sarah Kim, Kelly King, Richard Ziegler, Lynn Schema, Evelyn S Redtree, Chester B Whitley
BACKGROUND: Infantile gangliosidoses include GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease). To date, natural history studies in infantile GM2 (iGM2) have been retrospective and conducted through surveys. Compared to iGM2, there is even less natural history information available on infantile GM1 disease (iGM1). There are no approved treatments for infantile gangliosidoses. Substrate reduction therapy using miglustat has been tried, but is limited by gastrointestinal side effects...
April 29, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28456990/prenatal-diagnosis-of-lysosomal-storage-disorders-using-chorionic-villi
#4
Jyotsna Verma, Sunita Bijarnia-Mahay, Ishwar C Verma
Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28442549/neuraminidases-3-and-4-regulate-neuronal-function-by-catabolizing-brain-gangliosides
#5
Xuefang Pan, Camila De Britto Pará De Aragão, Juan P Velasco-Martin, David A Priestman, Harry Y Wu, Kohta Takahashi, Kazunori Yamaguchi, Luisella Sturiale, Domenico Garozzo, Frances M Platt, Nathalie Lamarche-Vane, Carlos R Morales, Taeko Miyagi, Alexey V Pshezhetsky
Gangliosides (sialylated glycolipids) play an essential role in the CNS by regulating recognition and signaling in neurons. Metabolic blocks in processing and catabolism of gangliosides result in the development of severe neurologic disorders, including gangliosidoses manifesting with neurodegeneration and neuroinflammation. We demonstrate that 2 mammalian enzymes, neuraminidases 3 and 4, play important roles in catabolic processing of brain gangliosides by cleaving terminal sialic acid residues in their glycan chains...
April 25, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28260576/shelley-z-reuter-testing-fate-tay-sachs-disease-and-the-right-to-be-responsible-minneapolis-mn-university-of-minnesota-press-2016-pp-%C3%A2-264-27-00-paperback-isbn-978-0-8166-9996-4
#6
https://www.readbyqxmd.com/read/28132521/direct-intracranial-injection-of-aavrh8-encoding-monkey-%C3%AE-n-acetylhexosaminidase-causes-neurotoxicity-in-the-primate-brain
#7
Diane Golebiowski, Imramsjah M J van der Bom, Churl-Su Kwon, Andrew D Miller, Keiko Petrosky, Allison M Bradbury, Stacy Maitland, Anna Luisa Kühn, Nina Bishop, Elizabeth Curran, Nilsa Silva, Dwijit GuhaSarkar, Susan V Westmoreland, Douglas R Martin, Matthew J Gounis, Wael F Asaad, Miguel Sena-Esteves
GM2 gangliosidoses, including Tay-Sachs disease and Sandhoff disease, are lysosomal storage disorders caused by deficiencies in β-N-acetylhexosaminidase (Hex). Patients are afflicted primarily with progressive central nervous system (CNS) dysfunction. Studies in mice, cats, and sheep have indicated safety and widespread distribution of Hex in the CNS after intracranial vector infusion of AAVrh8 vectors encoding species-specific Hex α- or β-subunits at a 1:1 ratio. Here, a safety study was conducted in cynomolgus macaques (cm), modeling previous animal studies, with bilateral infusion in the thalamus as well as in left lateral ventricle of AAVrh8 vectors encoding cm Hex α- and β-subunits...
June 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28048545/we-de-207a-04-advances-in-radiological-neuro-endovascular-interventional-imaging
#8
S Rudin
1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures. Along with development of catheters, embolic materials, pushable coils and the GDC coils there was simultaneous development and improvement of 2D DSA image quality and the introduction of 3D DSA...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28048454/we-de-207a-00-advances-in-image-guided-neurointerventions-clinical-pull-and-technology-push
#9
Jeffrey Siewerdsen, Rebecca Fahrig
1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures. Along with development of catheters, embolic materials, pushable coils and the GDC coils there was simultaneous development and improvement of 2D DSA image quality and the introduction of 3D DSA...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047800/we-de-207a-01-parallels-in-the-evolution-of-x-ray-angiographic-systems-and-devices-used-for-minimally-invasive-endovascular-therapy
#10
C Strother
1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures. Along with development of catheters, embolic materials, pushable coils and the GDC coils there was simultaneous development and improvement of 2D DSA image quality and the introduction of 3D DSA...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047144/we-de-207a-02-advances-in-cone-beam-ct-anatomical-and-functional-imaging-in-angio-suite-to-enable-one-stop-shop-stroke-imaging-workflow
#11
G Chen
1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures. Along with development of catheters, embolic materials, pushable coils and the GDC coils there was simultaneous development and improvement of 2D DSA image quality and the introduction of 3D DSA...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28046482/we-de-207a-03-recent-advances-in-devices-used-in-neuro-interventions
#12
M Gounis
1. Parallels in the evolution of x-ray angiographic systems and devices used for minimally invasive endovascular therapy Charles Strother - DSA, invented by Dr. Charles Mistretta at UW-Madison, was the technology which enabled the development of minimally invasive endovascular procedures. As DSA became widely available and the potential benefits for accessing the cerebral vasculature from an endovascular approach began to be apparent, industry began efforts to develop tools for use in these procedures. Along with development of catheters, embolic materials, pushable coils and the GDC coils there was simultaneous development and improvement of 2D DSA image quality and the introduction of 3D DSA...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28007910/neuronal-pentraxin-1-depletion-delays-neurodegeneration-and-extends-life-in-sandhoff-disease-mice
#13
Alexander W M Hooper, Javier F Alamilla, Rosemarie E Venier, Deda C Gillespie, Suleiman A Igdoura
GM2 gangliosidoses are a group of lysosomal storage disorders which include Sandhoff disease and Tay-Sachs disease. Dysregulation of glutamate receptors has been recently postulated in the pathology of Sandhoff disease. Glutamate receptor association with neuronal pentraxins 1 and 2, and the neuronal pentraxin receptor facilitates receptor potentiation and synaptic shaping. In this study, we have observed an upregulation of a novel form of neuronal pentraxin 1 (NP1-38) in the brains of a mouse model of Sandhoff disease and Tay-Sachs disease...
February 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/27972312/investigating-the-cost-effectiveness-of-genetic-counselling-for-couples-at-known-risk-of-having-children-with-tay-sachs-disease-a-two-generation-model
#14
W Ghosh, M Griffiths, A Griffiths
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27879213/generation-of-hexa-deficient-hipscs-from-fibroblasts-of-a-tay-sachs-disease-patient
#15
Zhong Liu, Rui Zhao
Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a polycistronic transcript, were used for reprogramming. TSD-01-hiPSC express pluripotency markers such as OCT4, SOX2, NANOG, Tra-1-60, and alkaline phosphatase, and can differentiate into tissues from all the three embryonic germ layers...
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27682588/tay-sachs-disease-mutations-in-hexa-target-the-%C3%AE-chain-of-hexosaminidase-a-to-endoplasmic-reticulum-associated-degradation
#16
Devin Dersh, Yuichiro Iwamoto, Yair Argon
Loss of function of the enzyme β-hexosaminidase A (HexA) causes the lysosomal storage disorder Tay-Sachs disease (TSD). It has been proposed that mutations in the α chain of HexA can impair folding, enzyme assembly, and/or trafficking, yet there is surprisingly little known about the mechanisms of these potential routes of pathogenesis. We therefore investigated the biosynthesis and trafficking of TSD-associated HexA α mutants, seeking to identify relevant cellular quality control mechanisms. The α mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type α...
December 1, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27577573/neural-stem-cell-transplantation-and-cns-diseases
#17
Rodolfo Gonzalez, Milton H Hamblin, Jean-Pyo Lee
In neurological disorders, pathological lesions in the central nervous system (CNS) may be globally dispersed throughout the brain or localized to specific regions. Although native neural stem cells (NSCs) are present in the adult mammalian brain, intrinsic self-repair of injured adult CNS tissue is inadequate or ineffective. The brain's poor regenerative ability may be due to the fact that NSCs are restricted to discrete locations, are few in number, or are surrounded by a microenvironment that does not support neuronal differentiation...
2016: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/27499644/animal-models-of-gm2-gangliosidosis-utility-and-limitations
#18
REVIEW
Cheryl A Lawson, Douglas R Martin
GM2 gangliosidosis, a subset of lysosomal storage disorders, is caused by a deficiency of the glycohydrolase, β-N-acetylhexosaminidase, and includes the closely related Tay-Sachs and Sandhoff diseases. The enzyme deficiency prevents the normal, stepwise degradation of ganglioside, which accumulates unchecked within the cellular lysosome, particularly in neurons. As a result, individuals with GM2 gangliosidosis experience progressive neurological diseases including motor deficits, progressive weakness and hypotonia, decreased responsiveness, vision deterioration, and seizures...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27491212/prevention-is-the-best-therapy-the-geneticist-s-approach
#19
Gheona Altarescu
Abstract During the last two decades prenatal genetic screening and diagnosis has become the cornerstone of medical care for family planning to prevent genetic disease. Carrier screening programs for genetic disorders that are prevalent in various populations identify couples and pregnancies at risk of having an affected child. These couples can proceed with a choice of invasive prenatal diagnosis tests of the fetus (chorionic villous sampling and amniocentesis), or non-invasive prenatal testing of free fetal DNA circulation in the maternal blood which has emerged within the last few years and is currently available for fetal sexing for X Linked disorders...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27402091/gm2-gangliosidosis-ab-variant-novel-mutation-from-india-a-case-report-with-a-review
#20
Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Krati Shah
BACKGROUND: GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India. CASE PRESENTATION: Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He was presented with global developmental delay, hypotonia and sensitive to hyperacusis...
2016: BMC Pediatrics
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