MACHADO-JOSEPH-DISEASE PRESENTING AS SEVERE ASYMMETRIC PROXIMAL NEUROPATHY

Despite much effort, a 74 year old man with progressive proximal weakn ess and sensory disturbances due to axonal neuropathy remained a diagn ostic problem. Investigation of his family disclosed an additional pat ient with a cerebellar syndrome and a family member with mainly pyrami dal features. Analysis of DNA showed a CAG repeat expansion in the Mac hado-Joseph disease gene in all three patients. Although not conclusiv ely proved, we think that the neuropathy of the index case is linked t o the CAG repeat expansion. Machado-Joseph disease should be considere d in progressive axonal neuropathy.