Machado-Joseph disease associated with an absence of fungiform papillae on the tongue.
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.
Department of Neurology, Chiba University School of Medicine, Japan. uchito@ma3.justnet.ne.jp
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Uchiyama
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Fukutake
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Arai
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Nakagawa
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Hattori
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D017827:Machado-Joseph Disease / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013650:Taste Buds / Q000473:pathology*; D014059:Tongue / Q000473:pathology*