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.