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NEUROLOGY 1985;35:875
© 1985 American Academy of Neurology

Adult GM1-gangliosidosis

Clinical patterns and rectal biopsy

Takeshi Nakano, MD, Shu-ichi Ikeda, MD, Kiyohiko Kondo, MD, Nobuo Yanagisawa, MD and Shoji Tsuji, MD

Department of Medicine (Neurology) (Drs. Nakano. Ikeda, Kando, and Yanagisawa). Shinshu University School of Medicine, Matsumoto, Japan: and the Metabolism Section (Dr. Tsuji). The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.

We studied a family with adult GM1-gangliosidosis. The proband, aged 38, had slowly progressive extrapyramidal signs with prominent dystonia, starting at about age 19. Two other patients, aged 45 and 43, had occasional slight dystonia, but led normal social lives because of mildness of their symptoms. Rectal biopsy of the proband showed histiocytic infiltration and membranous cytoplasmic bodies in the autonomic neurons. This family shows the clinical heterogeneity in adult GM1-gangliosidosis.

Address correspondence and reprint requests to Dr. Nakano, Department of Medicine (Neurology), Shinshu University School of Medicine, Matsumoto, 390. Japan.

Accepted for publication October 17, 1984.




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