Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.

doi:10.1016/0022-510x(90)90269-s

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Article

Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.

Journal of the neurological sciences - 1 Sept 1990

Mitsuo K, Nakano T, Kobayashi T, Goto I, Taniike M, Suzuki K

Abstract excerpt

A 35-year-old Japanese man with juvenile Sandhoff disease is described. He showed progressive neurogenic muscular atrophy, cerebellar ataxia and mental deterioration, beginning at age 10 years. The accumulation of GM2 ganglioside in the submucosal nerve cell was confirmed by positive immunostaini...

Topics

Adult
Aging
Base Sequence
Blotting, Northern
DNA
Fibroblasts
G(M2) Ganglioside
Genes
Humans
Male
Mutation
Polymerase Chain Reaction
RNA, Messenger
Sandhoff Disease
beta-N-Acetylhexosaminidases

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