Atypical adult GM1 gangliosidosis: Biochemical comparison with other forms of primary ß-galactosidase deficiency

Tatsuro Mutoh, Makoto Naoi, Akira Takahashi, Munemitsu Hoshino, Yoshiyuki Nagai, Toshiharu Nagatsu

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)

Abstract

We studied ß-galactosidase in skin fibroblasts from patients with different forms of ß-galactosidase deficiency: adult GM1 gangliosidosis, type 1 GMl gangliosidosis, and Morquio B syndrome. Enzyme properties in the adult cases differed from the other disorders and also from normal controls. Genetic hybridization studies indicated that all three forms belong to the same complementation group. Therefore, the adult disorder must be due to a mutation of the structural gene for ß-galactosidase, which is allelic to the mutations in type 1 GM1 gangliosidosis and Morquio B syndrome.

Original languageEnglish
Pages (from-to)1237-1241
Number of pages5
JournalNeurology
Volume36
Issue number9
DOIs
Publication statusPublished - 09-1986
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

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