Relevant bibliographies by topics / Gangliosidosis

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Academic literature on the topic 'Gangliosidosis'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "Gangliosidosis"

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Abdullahi, Sakina M., Hafsat W. Idris, Halima A. Sadiku, and El-ishaq Abubakar. "GM1-gangliosidosis in a Nigerian infant: A case report." Nigerian Journal of Paediatrics 48, no. 1 (February 4, 2021): 50–53. http://dx.doi.org/10.4314/njp.v48i1.10.

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Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta-galactosidase (GLB11) resulting in the storage of the substrate- GM1 ganglioside in brain and visceral organs. GM1 gangliosidosis comprises three phenotypes, depending on the age of onset: an infantile, juvenile and adult type. In the infantile type dysmorphic features, severe psychomotor retardation, hepatosplenomegaly, bone changes and a cherry red spot in the macular region are seen. The juvenile GM1 gangliosidosis has no such external distinguishing features. In the adult type behavioural problems, dementia, extrapyramidal problems are specifically prominent. The authors present symptoms, clinical course and laboratory findings of a one-year-old boy with a diagnosed GM1 gangliosidosis. He presented with skin rashes since birth, delay in achievement of developmental milestones, progressive weight loss and recurrent diarrhoea of six-months duration.
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Obradovic, Slobodan, Olivera Laban, Zoran Igrutinovic, Biljana Vuletic, Ana Vujic, and Jasmina Djindjic. "GM1 gangliosidosis: Case report." Medical review 63, no. 5-6 (2010): 427–30. http://dx.doi.org/10.2298/mpns1006427o.

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Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions. Case report. We present a patient with an early, infintile type of GM1 gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with amimic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness. Conclusion. The absence of ?-galaktosidase enzyme activaty at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic.
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Millichap, J. Gordon. "Infantile Gangliosidosis." Pediatric Neurology Briefs 2, no. 8 (August 1, 1988): 59. http://dx.doi.org/10.15844/pedneurbriefs-2-8-4.

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Praamstra, P., R. A. Wevers, F. J. M. Gabreëls, J. J. Rotteveel, W. O. Renier, R. C. A. Sengers, and K. J. B. Lamers. "GM2-gangliosidosis." Clinical Neurology and Neurosurgery 92, no. 2 (January 1990): 143–48. http://dx.doi.org/10.1016/0303-8467(90)90090-r.

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Draïss, Ghizlane, Adil Fouad, Nourddine Rada, Ouafa Hocar, Naima Fdil, and Mohamed Bouskraoui. "Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots." Open Pediatric Medicine Journal 9, no. 1 (January 31, 2019): 1–4. http://dx.doi.org/10.2174/1874309901909010001.

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Introduction: GM1-gangliosidosis is an inherited metabolic disease caused by mutations in the GLB1 gene resulting in deficiency of β-galactosidase. Three forms have been identified: Infantile, juvenile, and adult. The infantile type progresses rapidly and aggressively and a delayed diagnosis hampers the prevention of many neurological deficits. This delay in diagnosis may be due to the variability of clinical expression of the disorder. Hypothesis: Extensive Mongolian or slate-grey spots deserve special attention as possible indications of associated inborn errors of metabolism, especially GM1-gangliosidosis and mucopolysaccharidosis. Only symptomatic treatments are available for GM1-gangliosidosis; research is underway. Observation: In this article, we report a case of infantile GM1-gangliosidosis revealed by slate-grey Mongolian spots, a rare condition in Morocco, and a review of the literature. Conclusion: The finding of persistent and extensive slate-grey mongolian spots in infant could lead to early detection of GM1-gangliosidosis before irreversible organ damage occurs.
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Gascon, Generoso G., Pinar T. Ozand, and Robert E. Erwin. "G M1 Gangliosidosis Type 2 in Two Siblings." Journal of Child Neurology 7, no. 1_suppl (April 1992): S41—S50. http://dx.doi.org/10.1177/08830738920070010711.

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A sister and brother, now aged 7 and 9 years, presented with developmental arrest, gait disturbance, dementia, and a progressive myoclonic epilepsy syndrome with hyperacusis in the second year of life. Then, spastic quadriparesis led to a decerebrate state. In the absence of macular or retinal degeneration, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis together with sea-blue histiocytes in bone marrow biopsies and deficient β-galactosidase activity but normal glucosidase, hexosaminidase, and neuraminidase activity on lysosomal enzyme assays constitutes the clinical-pathologic-biochemical profile of GM1 gangliosidosis type 2. This is a rare, late infantile onset, progressive gray-matter disease in which β-galactosidase deficiency is largely localized to the brain, though it can be demonstrated in leukocytes and cultured skin fibroblasts. It must be distinguished from the Jansky-Bielschowsky presentation of neuronal ceroid lipofuscinosis, mitochondrial encephalopathy, lactic acidosis, strokelike episodes (MELAS) and myoclonic epilepsy with ragged-red fibers (MERRF) syndromes, atypical presentations of GM2 gangliosidoses (Tay-Sachs and Sandhoff's diseases), primary sialidosis (neuraminidase deficiency), galactosialidosis, and Alpers' disease. (J Child Neurol 1992;7(Suppl):S41-S50.)
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Murnane, R. D., A. J. Ahern-Rindell, and D. J. Prieur. "Ovine GM1 gangliosidosis." Small Ruminant Research 6, no. 1-2 (October 1991): 109–18. http://dx.doi.org/10.1016/0921-4488(91)90014-h.

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Luu, Amanda R., Cara Wong, Vishal Agrawal, Nathan Wise, Britta Handyside, Melanie J. Lo, Glenn Pacheco, et al. "Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency." Journal of Biological Chemistry 295, no. 39 (July 28, 2020): 13556–69. http://dx.doi.org/10.1074/jbc.ra119.010794.

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Mutations in the galactosidase β 1 (GLB1) gene cause lysosomal β-galactosidase (β-Gal) deficiency and clinical onset of the neurodegenerative lysosomal storage disease, GM1 gangliosidosis. β-Gal and neuraminidase 1 (NEU1) form a multienzyme complex in lysosomes along with the molecular chaperone, protective protein cathepsin A (PPCA). NEU1 is deficient in the neurodegenerative lysosomal storage disease sialidosis, and its targeting to and stability in lysosomes strictly depend on PPCA. In contrast, β-Gal only partially depends on PPCA, prompting us to investigate the role that β-Gal plays in the multienzyme complex. Here, we demonstrate that β-Gal negatively regulates NEU1 levels in lysosomes by competitively displacing this labile sialidase from PPCA. Chronic cellular uptake of purified recombinant human β-Gal (rhβ-Gal) or chronic lentiviral-mediated GLB1 overexpression in GM1 gangliosidosis patient fibroblasts coincides with profound secondary NEU1 deficiency. A regimen of intermittent enzyme replacement therapy dosing with rhβ-Gal, followed by enzyme withdrawal, is sufficient to augment β-Gal activity levels in GM1 gangliosidosis patient fibroblasts without promoting NEU1 deficiency. In the absence of β-Gal, NEU1 levels are elevated in the GM1 gangliosidosis mouse brain, which are restored to normal levels following weekly intracerebroventricular dosing with rhβ-Gal. Collectively, our results highlight the need to carefully titrate the dose and dosing frequency of β-Gal augmentation therapy for GM1 gangliosidosis. They further suggest that intermittent intracerebroventricular enzyme replacement therapy dosing with rhβ-Gal is a tunable approach that can safely augment β-Gal levels while maintaining NEU1 at physiological levels in the GM1 gangliosidosis brain.
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Kochumon, Sheena, Dhanya Yesodharan, KP Vinayan, Natasha Radhakrishnan, Jayesh Sheth, and Sheela Nampoothiri. "GM2 activator protein deficiency, mimic of Tay-Sachs disease." International Journal of Epilepsy 04, no. 02 (December 2017): 184–87. http://dx.doi.org/10.1016/j.ijep.2017.08.001.

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AbstractGM2 Gangliosidoses are a group of autosomal recessive genetic disorders caused by intra-lysosomal deposition of ganglioside GM2 mainly in the neuronal cells. GM2-Activator protein deficiency is an extremely rare type of GM2 gangliosidosis (AB variant) caused by the mutation of GM2A.We report a case of a female child who presented with clinical features similar to classical Tay-Sachs disease, but with normal beta hexosaminidase enzyme levels. Molecular study revealed a novel homozygous intronic mutation which confirmed the diagnosis of GM2 Activator protein deficiency. GM2 Activator protein deficiency is a mimic of Classical Tay-Sachs disease and should be a differential diagnosis in children who present with neuroregression, cherry red spots without hepatosplenomegaly and with normal beta hexosaminidase enzyme levels.
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Denis, Robert, Jean-Louis Wayemberg, Michèle Vermeulen, Frans Gorus, Inge Liebaers, and Esther Vamos. "Hyperphosphatasemia in GM1 gangliosidosis." Journal of Pediatrics 120, no. 1 (January 1992): 164. http://dx.doi.org/10.1016/s0022-3476(05)80630-4.

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Dissertations / Theses on the topic "Gangliosidosis"

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Kannebley, João Stein 1971. "Aspectos clínicos, radiológicos e neuroimagem em 12 pacientes com Gangliosidose GM1, formas juvenil e crônica." [s.n.], 2015. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312528.

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Orientador: Carlos Eduardo Steiner
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
Made available in DSpace on 2018-08-26T23:18:35Z (GMT). No. of bitstreams: 1 Kannebley_JoaoStein_M.pdf: 9118721 bytes, checksum: 33988e2512a8c525b91c3d93a783a368 (MD5) Previous issue date: 2015
Resumo: A gangliosidose GM1 é uma doença rara causada pela deficiência da enzima ?-galactosidase, decorrente de mutações no gene GLB1, acarretando o acúmulo de gangliosídeos, principalmente o GM1. É classificada em três formas dependendo da idade de início dos sintomas. Em todas ocorrem alterações esqueléticas e deterioração neurológica, sendo que na forma adulta predominam sinais extrapiramidais como distonia. No presente estudo descrevemos as características de 12 pacientes com gangliosidose GM1 nas formas juvenil e crônica de 10 famílias não aparentadas provenientes da região de Campinas, SP, e do sul do estado de Minas Gerais. Foram detalhados a história clínica e o exame físico, em especial o neurológico, bem como de aspectos radiológicos, ultrassonográficos, ecocardiográficos e de neuroimagem. Metade dos casos iniciou com queixas ósteo-articulares e outra metade com sintomas neurológicos, porém com a evolução todos apresentaram uma combinação de disostose múltipla e neurodegeneração. Opacificação de córnea e angioqueratomas foram vistos em um caso, cada. Outros sinais comumente associados às doenças de depósito lisossômico não foram vistos nesta casuística. Todos apresentaram baixa estatura, disostose múltipla, disartria e prejuízo nas atividades de vida diária, 10 tinham distonia e disfagia, nove atrofia muscular e oito sinais piramidais e alterações da movimentação ocular. Barra óssea e os odontoideum foram vistos em dois casos, sendo alterações previamente não descritas nessa condição. Exames de neuroimagem mostraram aumento do sistema ventricular e hipointensidade de sinal em globos pálidos em todos, além de deformidades vertebrais, hiperintensidade de sinal de putâmen e atrofia cortical na maioria. Alterações em tálamo, substância branca ou atrofia cerebelar não foram identificadas nessa série
Abstract: GM1 gangliosidosis is a rare disorder caused by deficiency in ?-galactosidase activity due to mutations in the GLB1 gene, leading to acumulation of gangliosides in multiple organs. Three main clinical forms have been described according to the age of onset. All present with skeletal deformities and neurologic deterioration, and in the adult form extrapyramidal signs including dystonia are frequent. In the present study we describe 12 subjects of 10 unrelated families from the region of Campinas and the southern state of Minas Gerais. Clinical information included detailed history, full neurologic examination, radiologic, ultrasonographic, echocardiographic, and neuroimaging description. Half of subjects presented initially with skeletal deformities, while the remaining opened clinical presentation with neurologic features. However, over time all presented dysostosis multiplex and neurodegeneration. Corneal clouding and angiokeratomas were seen in one individual each. Other features commonly described in lysosomal storage disorders were not found in this series. All subjects presented with short stature, dysostosis multiplex, dysarthria, and impairment of activities of daily living, 10 had extrapyramidal signs, nine had muscular atrophy, and eight had pyramidal signs and mild oculomotor abnormalities. A vertebral bone bar and os odontoideum were found in two patients, being previously undescribed in this condition. Neuroimaging revealed enlargement of the ventricular system and hypointensity of globus pallidus in all, besides vertebral deformities, putaminal hyperintensity, and cortical atrophy in most patients. Thalamic changes, abnormal white matter or cerebellar atrophy were not seen in this series
Mestrado
Genetica Medica
Mestre em Ciências Médicas
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Elliot-Smith, Elena. "GM1 gangliosidosis : therapy and pathogenesis." Thesis, University of Oxford, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.425028.

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Baptista, Marcella Bergamini de 1988. "Análise de mutações no gene GLB1 em pacientes com gangliosidose GM1 formas juvenil e crônica." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308543.

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Orientador: Carlos Eduardo Steiner
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
Made available in DSpace on 2018-08-23T05:21:25Z (GMT). No. of bitstreams: 1 Baptista_MarcellaBergaminide_M.pdf: 1959777 bytes, checksum: 5e9549a5e21a411c116468e665693472 (MD5) Previous issue date: 2013
Resumo: Gangliosidose GM1 é uma doença autossômica recessiva rara, classificada em três formas clínicas de acordo com a idade de apresentação dos sintomas e a gravidade, provocada pela deficiência da enzima lisossômica ?-galactosidase que leva ao acúmulo, principalmente, do gangliosídeo GM1. A forma juvenil geralmente apresenta início entre sete meses e três anos de idade, com progressão lenta dos sinais neurológicos, dimorfismos menos graves que na forma infantil e deformidades ósseas. A forma crônica é caracterizada por apresentações clínicas mais leves e sintomas extrapiramidais. O gene codificador da enzima é o GLB1, no qual mais de 130 mutações foram descritas. No presente estudo foi realizada a caracterização molecular de 10 indivíduos de nove famílias não relacionadas diagnosticados com gangliosidose GM1, nas formas juvenil e crônica. Todas as famílias são originárias do interior do estado de São Paulo ou do sul do estado de Minas Gerais. Para a análise realizada foi possível identificar a mutação anteriormente descrita p.T500A, em sete das nove famílias estudadas, a inserção c.1717- 1722insG e a mutação p.R59H foram encontradas em duas famílias (a última segregou juntamente com o polimorfismo descrito IVS12+8T>C). As demais mutações descritas (p.F107L, p.L173P, p.R201H, p.G311R) foram encontradas em uma família cada. Uma alteração neutra (p.P152P) e duas mutações (p.I354S e p.T384S) são inéditas. Foi possível identificar a ocorrência de uma mutação de novo em uma família. Todas as mutações foram encontradas em heterozigose
Abstract: GM1 gangliosidosis is a rare autosomal recessive, classified in three clinical types according to age of onset and severity. The disease is caused by the deficiency of lysosomal enzyme ?-galactosidase that leads to the accumulation of GM1 ganglioside. The juvenile form usually shows an onset between seven months and three years of age, with slowly progressive neurological signs, less severe dysmorphisms than the infantile form and skeletal changes. The adult form is specified by a milder clinical manifestations and extrapyramidal signs. The lysossomal enzyme is coded by the GLB1 gene which more than 130 mutations have been decribed. In the present study it was genotyped 10 individuals of nine unrelated families originated from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. It was possible to find the previously described mutations p.T500A in seven of the nine families, c.1717-1722insG and p.R59H in two alleles (the latter also segregating with IVS12+8T>C), and p.F107L, p.L173P, p.R201H, and p.G311R in one familie each. One neutral alteration (p.P152P) and two mutations (p.I354S and p.T384S) are described for the first time. The occurrence of a de novo mutation was seen in one family. All patients presented as heterozygous compound
Mestrado
Ciencias Biomedicas
Mestra em Ciências Médicas
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Ribeiro, Maria Gil Roseira. "Biochemical and genetic studies on GM2-Gangliosidosis : Tay-Sachs disease and variants." Tese, Universidade do Porto. Reitoria, 1995. http://hdl.handle.net/10216/10290.

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Ribeiro, Maria Gil Roseira. "Biochemical and genetic studies on GM2-Gangliosidosis : Tay-Sachs disease and variants." Doctoral thesis, Universidade do Porto. Reitoria, 1995. http://hdl.handle.net/10216/10290.

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Heinecke, Karie A. "Myelin abnormalities in the optic and sciatic nerves of mice with GM1-gangliosidosis." Thesis, Boston College, 2014. http://hdl.handle.net/2345/bc-ir:103611.

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Thesis advisor: Thomas N. Seyfried
GM1 gangliosidosis is a glycosphingolipid lysosomal storage disease caused by a genetic deficiency of acid b-galactosidase (β-gal), the enzyme that catabolyzes GM1 within lysosomes. Accumulation of GM1 and its asialo form (GA1) occurs primarily in the brain, leading to progressive neurodegeneration and brain dysfunction. Less information is available on the neurochemical pathology in optic nerve and sciatic nerve of GM1- gangliosidosis. Here we analyzed the lipid content and myelin structure in optic and sciatic nerve in 7 and 10 month old normal β-gal (+/?) and GM1-gangliosidosis β-gal (-/-) mice. Optic nerve weight was lower in the β-gal -/- mice than in unaffected β-gal +/? mice, but no difference was seen between the normal and the β-gal -/- mice for sciatic nerve weight. The concentrations of GM1 and GA1 were significantly higher in optic nerve and sciatic nerve in the β-gal -/- mice than in β-gal +/? mice. The content and composition of myelin-enriched cerebrosides, sulfatides, plasmalogen ethanolamines were significantly lower in optic nerve of β-gal -/- mice than in β-gal +/? mice, however cholesteryl esters were enriched in the β-gal -/- mice. No significant abnormalities in these myelin enriched lipids were detected in sciatic nerve of the β-gal -/- mice. The abnormalities in GM1 and myelin lipids in optic nerve of β-gal -/- mice were also associated with abnormalities in the X-ray diffraction pattern including myelin content in fresh nerves [M/(M +B)] and periodicity (d). With the exception of a slight reduction in myelin content, no abnormalities in the X-ray diffraction pattern were observed in sciatic nerve of β-gal -/- mice. The results indicate that neurochemical pathology is greater in optic nerve than in sciatic nerve of β-gal -/- mice
Thesis (MS) — Boston College, 2014
Submitted to: Boston College. Graduate School of Arts and Sciences
Discipline: Biology
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Akgoc, Zeynep. "Bis(monoacylglycero)phosphate (BMP), a Novel Macrophage Associated Phospholipid: Implications in Gangliosidoses and Cancer." Thesis, Boston College, 2015. http://hdl.handle.net/2345/bc-ir:104490.

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Thesis advisor: Thomas N. Seyfried
Thesis advisor: Charles Hoffman
Bis(monoacylglycero)phosphate, BMP, is a negatively charged glycerol-phospholipid with an unusual sn-1;sn-1’ structural configuration. BMP is primarily enriched in endosomal/lysosomal membranes. BMP is thought to play a role in glycosphingolipid degradation and cholesterol transport. It constitutes only about 1-2% of the total phospholipids in most mammalian cells, but is abundant in lung alveolar macrophages where it can comprise up to 16% of the total phospholipids. BMP also accumulates in tissues of humans and animals with lysosomal storage disorders. However, little information is available on BMP levels in gangliosidosis brain tissue. In this work, I found that total BMP content was significantly greater in cells of macrophage/microglial origin than in cells of macroglial origin (astrocyte, oligodendrocyte progenitor), whether normal or tumorigenic. I also observed that BMP in brain was significantly greater in humans and in animals (mice, cats, American black bears) with either GM1 or GM2 ganglioside storage diseases, than in brains of normal subjects. Since BMP is associated with macrophages, I also analyzed the BMP levels in relation to disease-associated inflammation in gangliosidoses. I found that BMP levels were increased due to accumulation of primary storage material gangliosides, rather than an outcome of disease-associated inflammation. In addition, in this thesis I also explored the effect of new ketogenic diet formula from Solace Nutrition (KetoGen) on the growth and metastatic spread of the VM-M3 tumor. Most current drug therapies for cancer are toxic and only marginally effective in providing long-term management. Respiratory insufficiency with compensatory aerobic fermentation (Warburg effect) is the hallmark biochemical phenotype of nearly all neoplastic cells within tumors. Calorie restriction, which lowers blood glucose and elevates ketone bodies, is known to reduce tumor growth to a certain extent, however it does not reduce systemic metastasis. Tumor bearing VM mice were fed either a standard lab chow diet in unrestricted amounts (SD-UR), a standard lab chow restricted to obtain an 18% reduction in body weight (SD-R), or the KetoGen diet restricted (KG-R) to match the body weights of the SD-R group. Tumor size was significantly smaller and organ metastasis was significantly less in the KG-R group than in the SD-UR or SD-R groups. Even though blood glucose was reduced similarly in both the SD-R and KG-R groups, blood ketones were 3-fold higher in the KG-R group than in the SD-R group. These results show that VM-M3 tumor growth and systemic metastasis were managed better with the restricted KetoGen KD than with calorie restriction of a high carbohydrate standard diet. As all human and mouse tumors cells suffer from respiratory insufficiency, my findings suggest that the restricted KetoGen diet should be an effective non-toxic therapy against tumor growth and systemic metastatic cancer
Thesis (PhD) — Boston College, 2015
Submitted to: Boston College. Graduate School of Arts and Sciences
Discipline: Biology
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Kreutzer, Robert. "Molecular pathogenesis, differential transcription of enzymes forming the lysosomal multienzymic complex and microsatellite based genotyping in canine GM1-gangliosidosis." Giessen : DVG-Service, 2008. http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&doc_number=017137159&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA.

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Whalen, Michael. "Treating GM1 Gangliosidosis With Ex Vivo Hematopoietic Stem Cell Gene Therapy Without Using Total Body Irradiation: A Masters Thesis." eScholarship@UMMS, 2011. https://escholarship.umassmed.edu/gsbs_diss/558.

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GM1 gangliosidosis is an autosomal recessive lysosomal storage disease, caused by a deficiency in the enzyme β-galactosidase. The disease affects the CNS, liver, kidney, heart and skeletal system, leading to severe neurodegeneration and death. We propose to treat this disorder using ex vivo hematopoietic stem cell therapy. The effectiveness of this therapy requires the recruitment of transduced donor cells to the CNS. This is only found to occur after mice are conditioned with total body irradiation, due to the increase in CNS cytokine production and blood brain barrier permeability that occurs. As the use of total body irradiation in pediatric patients has been linked to future developmental problems, this myeloablation approach is often avoided in younger patients in favor of a conditioning regimen using the chemotherapy drugs, busulfan and cyclophosphamide. Whether donor cells can enter the CNS when a busulfan and cyclophosphamide conditioning regimen is used has not been determined. In this study we plan to quantify the cytokine and blood-brain barrier permeability increases necessary for donor cells to be recruited to the CNS after total body irradiation. We will then investigate whether busulfan and cyclophosphamide conditioning and/or the chronic neuroinflammation present in GM1 mice can produce similar conditions and facilitate the recruitment of donor hematopoietic stem cells to the CNS. Finally we will assess whether ex vivo hematopoietic stem cell gene therapy is still an effective therapy when busulfan and cyclophosphamide are used for myeloablative conditioning.
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Weismann, Cara M. "Approaches and Considerations Towards a Safe and Effective Adeno-Associated Virus Mediated Therapeutic Intervention for GM1-Gangliosidosis: A Dissertation." eScholarship@UMMS, 2014. http://escholarship.umassmed.edu/gsbs_diss/767.

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GM1 gangliosidosis is a lysosomal storage disorder caused by a deficiency in the catabolizing enzyme β-galactosidase (βgal). This leads to accumulation of GM1-ganglioside (GM1) in the lysosome inducing ER stress and cell death. GM1 gangliosidosis is primarily a disorder of the central nervous system (CNS) with peripheral organ involvement. In this work we report two major findings, 1) systemic treatment of GM1 gangliosidosis with an adenoassociated virus (AAV9) encoding mouse-βgal (mβgal) in a GM1 gangliosidosis mouse model (βGal-/-), and 2) an investigation into an intracranial injection of a therapeutic AAVrh8 encoding mβgal. Systemic treatment of GM1 gangliosidosis with AAV9 resulted in a moderate expression of enzyme in the CNS, reduction of GM1 storage, significant retention of motor function and a significant increase in lifespan. Interestingly, the therapeutic effect was more robust in females. Intracranial injections of AAVrh8 vector expressing high levels of βgal resulted in enzyme spread throughout the brain, significant retention of motor function and a significant increase in lifespan. Histological alterations were also found at the injection site in both βGal-/- and normal animals. We constructed a series of vectors with a range of decreasing enzyme expression levels to investigate the cause for the unanticipated result. Microarrays were performed on the injection site and we showed that a lower expressing AAVrh8-mβgal vector mitigated the negative response. Intracranial injection of this newly developed vector was shown to clear lysosomal storage throughout the CNS of βGal-/- mice. Taken together, these studies indicate that a combined systemic and fine-tuned intracranial approach may be the most effective in clearing lysosomal storage completely in the CNS while providing therapeutic benefit to the periphery.
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Books on the topic "Gangliosidosis"

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Parker, James N., and Philip M. Parker. AB variant GM2-gangliosidosis: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. San Diego, CA: ICON Health Publications, 2007.

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Ahern-Rindell, Amelia. The genetic relationship between feline GM₁ gangliosidosis and juvenile GM₁ gangliosidosis. 1985.

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Roze, Emmanuel, and Frédéric Sedel. Gangliosidoses (GM1 and GM2). Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0050.

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Abstract:
GM1 gangliosidosis is due to beta-galactosidase deficiency. The adult-onset form is characterized by progressive generalized dystonia, often associated with akineto-rigid Parkinsonism. Mild skeletal dysplasia and short stature are good diagnostic clues. GM2 gangliosidosis is due to beta-hexosaminidase deficiency. The adult-onset form is characterized by complex neurological disorders, in which features resulting from cerebellar and motor neuron dysfunction are the most frequent. Movement disorders, psychotic symptoms, mild pyramidal signs, axonal polyneuropathy, autonomic dysfunction, and vertical supranuclear palsy can also be observed. Clinical severity and the rate of progression both vary widely from one patient to another. Diagnosis is based on measurements of enzyme activity and molecular analysis. Physiotherapy, speech therapy and management of swallowing are crucial for these patients’ quality of life and prognosis.
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Holler, Larry Dean. Ectopic neuritogenesis and ganglioside alterations in ovine GM1 gangliosidosis: A developmental study. 1993.

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Association of a nonsense mutation at the codon for Glu 54 in the GM2A gene with AB variant G(M2) gangliosidosis: Characterizing the intron/exon junctions of the gene. Ottawa: National Library of Canada, 1999.

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Klavins, Maris Herbert. Biochemical criteria for the differentiation of clinical phenotypes in O-variant GM r gangliosidosis. Isolation and characterization of a cDNA clone coding for the full length polypeptide chain of human hexosaminidase. 1987.

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Book chapters on the topic "Gangliosidosis"

1

van der Knaap, Marjo S., and Jacob Valk. "GM2 Gangliosidosis." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 81–89. Berlin, Heidelberg: Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-03078-3_10.

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van der Knaap, Marjo S., and Jacob Valk. "GM1 Gangliosidosis." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 76–80. Berlin, Heidelberg: Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-03078-3_9.

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Valk, Jacob, and Marjo S. van der Knaap. "GM1 Gangliosidosis." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 88–90. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-662-02568-0_11.

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Valk, Jacob, and Marjo S. van der Knaap. "GM2 Gangliosidosis." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 91–94. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-662-02568-0_12.

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Valk, Jacob, and Marjo S. van der Knaap. "GM3 Gangliosidosis." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 148. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-662-02568-0_27.

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Timson, David J., Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, et al. "Gangliosidosis B, B1." In Encyclopedia of Molecular Mechanisms of Disease, 679. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_5035.

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Timson, David J., Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, et al. "GM2 Gangliosidosis Type I." In Encyclopedia of Molecular Mechanisms of Disease, 738–39. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3128.

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Timson, David J., Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, et al. "Gangliosidosis, Pseudo AB Variant." In Encyclopedia of Molecular Mechanisms of Disease, 679. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_5036.

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Siddiqui, Aazim A., and Allen O. Eghrari. "Tay-Sachs Disease (GM2 Gangliosidosis Type I)." In Encyclopedia of Ophthalmology, 1–3. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-35951-4_595-1.

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Siddiqui, Aazim A., and Allen O. Eghrari. "Tay-Sachs Disease (GM2 Gangliosidosis Type I)." In Encyclopedia of Ophthalmology, 1766–69. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_595.

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Conference papers on the topic "Gangliosidosis"

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Eikelberg, D., A. Lehmbecker, G. Brogden, W. Tongtako, K. Hahn, A. Habierski, J. B. Hennermann, et al. "Axonopathie und Reduktion des Membran-widerstands: Hauptmerkmale in einem neuen Mausmodell für die humane GM1 Gangliosidose." In 63. Jahrestagung der Fachgruppe Pathologie der Deutschen Veterinärmedizinischen Gesellschaft. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1712562.

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