Tay-Sachs Disease (Gangliosidosis G(M2), Type I; G(M2) Gangliosidosis, Type I; Gangliosidosis GM2, B Variant; Hexosaminidase A Deficiency Disease; Tay-Sachs Disease, B Variant)
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the hexosaminidase a resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased hexosaminidase b but absence of hexosaminidase a) and is strongly associated with Ashkenazic Jewish ancestry.
seen in Tay Sachs disease: en.wikipedia.org
The Cure Tay-Sachs Foundation www.curetay-sachs.org