Results 11 to 20 of about 4,924,951 (177)
An Inducible Mouse Model of Late Onset Tay–Sachs Disease
Neurobiology of Disease, 2002 Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological disease and mimics the human infantile onset variant. However, the
Mylvaganam Jeyakumar +10 more
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GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease [PDF]
Journal of Neuroinflammation, 2020 Background Tay-Sachs disease (TSD), a type of GM2-gangliosidosis, is a progressive neurodegenerative lysosomal storage disorder caused by mutations in the α subunit of the lysosomal β-hexosaminidase enzyme.
Seçil Akyıldız Demir +4 more
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Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay–Sachs Disease [PDF]
Neurology InternationalTay–Sachs disease (TSD) is a rare and severe neurodegenerative disorder inherited in an autosomal recessive manner. It is caused by a deficiency of the enzyme hexosaminidase A, which is responsible for the degradation of GM2 gangliosides—lipids that ...
María González-Sánchez +2 more
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São Paulo Medical JournalCONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier ...
Roberto Rozenberg +1 more
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Prenatal Diagnosis Of Tay-Sachs Disease
Gynecology Obstetrics & Reproductive Medicine, 2010 OBJECTIVE: To emphasize the efficacy and safety of the prenatal invasive procedures for prenatal diagnosis of Tay-Sachs disease. STUDY DESIGN: In this case series, the results of the prenatal invasive procedures that were performed for diagnosing Tay ...
Özgür Özyüncü +4 more
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Late-onset Tay–Sachs disease [PDF]
Practical Neurology, 2017 We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms.
Andrew W Barritt +3 more
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Tay-Sachs disease: a case report
The Turkish Journal of Pediatrics, 1995 Tay-Sachs disease (GM2 gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A.
A E Arisoy, S Ozden, G Ciliv, I Ozalp
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Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Tay–Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme.
Ji Hong Park +7 more
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Tay-Sachs Disease is a rare genetic disorder that causes progressive damage to the nervous system, primarily affecting infants and young children. This article begins by explaining the genetic cause of the disease, which involves mutations in the HEXA gene leading to the absence of beta-hexosaminidase A, an enzyme essential for breaking down fatty ...
Lui F, Ramani PK, Parayil Sankaran B.
europepmc +3 more sources
Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease [PDF]
Human Genome VariationGenetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay‒Sachs disease. The patient gradually became unable to consume food orally.
Masaharu Moroto +9 more
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