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NEUROLOGY 1986;36:1237
© 1986 American Academy of Neurology

Atypical adult GM1 gangliosidosis

Biochemical comparison with other forms of primary ß-galactosidase deficiency

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

Departments of Neurology (Drs. Mutoh and Takahashi), Biochemistry (Drs. Naoi and Nagatsu), and Pathology (Dr. Hoshino). and the Research Institute for Disease Mechanism and Control (Dr. Nagai), Nagoya University School of Medicine, Nagoya, Japan.

We studied ß-galactosidase in skin fibroblasts from patients with different forms of ß-galactosidase deficiency: adult GM1 gangliosidosis, type 1 GM1 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.

Address correspondence and reprint requests to Dr. Mutoh, Division of Neurology, 2nd Department of Internal Medicine, Fukui Medical School, Shimoaigetsu 23, Sakai-gun, Fukui-ken 910-11, Japan.

Accepted for publication January 28, 1986.






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