A family with β-galactosidase deficiency: Three adults with atypical clinical patterns

Tatsuro Mutoh, Itsuro Sobue, Makoto Naoi, Yukihiko Matsuoka, Kazutoshi Kiuchi, Kimiya Sugimura

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Three adult patients in a single family showed severe myoclonus, ataxia, and pyramidal signs. Enzymatic analysis of lymphocytes, plasma, and cultured skin fibroblasts showed marked deficiency of β-galactosidase activity, more profound with GM1 ganglioside than with another natural substrate, asialofetuin. Other lysosomal hydrolases were normal. Although the physical signs were similar to those of types 1 and 2 GM1 gangliosidosis, none had bony abnormalities.

Original languageEnglish
Pages (from-to)54-59
Number of pages6
JournalNeurology
Volume36
Issue number1
DOIs
Publication statusPublished - 01-1986

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

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