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NEUROLOGY 1985;35:1490
© 1985 American Academy of Neurology

Type 3 (adult) GM1 gangliosidosis

Case report

Keiko Ohta, MD, Shoji Tsuji, MD, Yoshikuni Mizuno, MD, Tetsushi Atsumi, MD, Tomoyasu Yahagi, MD and Tadashi Miyatake, MD

From the Department of Neurology (Drs. Ohta, Tsuji, and Miruno), Jichi Medical School, Minamikawachi-machi, Kawachi-gun, Tochigi-ken 329–04, Japan; the Department of Neurolngy (Drs. Atsumi and Miyatake), Brain Research Institute, Niigata University, Asahimachi-dori, Niigata 951, Japan; and the Department of Internal Medicine (Dr. Yahagi), Yarnagata Central Hospital, Yamagata 990, Japan.

GM1 gangliosidosis is usually a pediatric disease caused by hereditary acid P-galactosidase deficiency. There have been a few cases in adults. We saw a 51-year-old Japanese man with type 3 GM1 gangliosidosis who was manifesting dementia, dysarthria, gait disturbance, and limb rigidity. Radiologic studies showed platyspondylia, acetabular hypoplasia, and flattened femoral heads. Biochemical analysis revealed generalized acid P-galactosidase deficiency.

Address correspondence and reprint requests to Dr. Ohta. Department of Neurology, Jichi Medical School, Minamikawachi-machi. Kawachi-gun, Tochigiken. Japan 329-04.

Accepted for publication January 31,1985.




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