Search results for “Sandhoff disease”

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Journal of Neurological Research and Therapy Open Access

Tay-Sachs Disease: From Molecular Characterization to Ethical Quandaries and the Possibility of Genetic Medicine

Jun 2022 DOI 10.14302/issn.2470-5020.jnrt-22-4217
Jeffrey O. HendersonCorresponding author

Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by mutations in the HEXA gene, which encodes the ɑ subunit of the enzyme β-hexosaminidase A. Lacking this key enzyme in GM2 ganglioside catabolism, individuals who are homozygous for HEXA mutations suffer from abnormal accumulation…

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