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NEUROLOGY 1986;36:54
© 1986 American Academy of Neurology

A family with ß-galactosidase deficiency

Three adults with atypical clinical patterns

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

Departments of Neurology (Drs. Mutoh, Sobue, Matsuoka, and Sugimura) and Biochemistry (Drs. Naoi and Kiuchi), Nagoya University School of Medicine, Nagoya, Japan.

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 ß-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.

Address correspondence and reprint requests to Dr. Mutoh, Department of Neurology, Nagoya University School of Medicine, Nagoya 466, Japan.

Accepted for publication April 30, 1985.




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