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Neurology 2001;56:558-560
© 2001 American Academy of Neurology
Brief Communications

Machado–Joseph disease associated with an absence of fungiform papillae on the tongue

T. Uchiyama, MD;, T. Fukutake, MD;, K. Arai, MD;, K. Nakagawa, MD; and T. Hattori, MD

From the Department of Neurology, Chiba University School of Medicine, Japan.

Address correspondence and reprint requests to Dr. Tomoyuki Uchiyama, Department of Neurology, Chiba University School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670, Japan; e-mail. uchito{at}ma3.justnet.ne.jp

The authors report the case of a family with Machado–Joseph disease (MJD) associated with sensory and autonomic disturbances—particularly the absence of fungiform papillae on the tongue and taste buds. Sural nerve biopsy showed a loss of myelinated fibers. Autonomic function tests showed bladder–bowel dysfunction, hypohidrosis, and low coefficients of variation of R-R intervals on electrocardiogram. These findings may be another possible variant or previously unrecognized symptoms in MJD.




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