Article
Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy.
Molecular genetics and metabolism - 1 Jan 2015
Gray-Edwards Heather L, Brunson Brandon L, Holland Merrilee, Hespel Adrien-Maxence, Bradbury Allison M, McCurdy Victoria J, Beadlescomb Patricia M, Randle Ashley N, Salibi Nouha, Denney Thomas S, Beyers Ronald J, Johnson Aime K, Voyles Meredith L, Montgomery Ronald D, Wilson Diane U, Hudson Judith A, Cox Nancy R, Baker Henry J, Sena-Esteves Miguel, Martin Douglas R
Abstract excerpt
Sandhoff disease (SD) is a fatal neurodegenerative disease caused by a mutation in the enzyme β-N-acetylhexosaminidase. Children with infantile onset SD develop seizures, loss of motor tone and swallowing problems, eventually reaching a vegetative state with death typically by 4years of age. Other symptoms include vertebral gibbus and cardiac abnormalities strikingly similar to those of the mucopolysaccharidoses....
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