title: Machado-Joseph disease presenting as severe asymmetric proximal neuropathy.
abstract: Despite much effort, a 74 year old man with progressive proximal weakness and sensory disturbances due to axonal neuropathy remained a diagnostic problem. Investigation of his family disclosed an additional patient with a cerebellar syndrome and a family member with mainly pyramidal features. Analysis of DNA showed a CAG repeat expansion in the Machado-Joseph disease gene in all three patients. Although not conclusively proved, we think that the neuropathy of the index case is linked to the CAG repeat expansion. Machado-Joseph disease should be considered in progressive axonal neuropathy.
authors.affiliation: Department of Neurology, Academic Medical Center, University of Amsterdam, The Netherlands.
authors.forename: I N
authors.initials: IN
authors.lastname: van Schaik
authors.forename: G J
authors.initials: GJ
authors.lastname: Jöbsis
authors.forename: M
authors.initials: M
authors.lastname: Vermeulen
authors.forename: H
authors.initials: H
authors.lastname: Keizers
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
authors.forename: M
authors.initials: M
authors.lastname: de Visser
mesh_terms: D000328:Adult; D000368:Aged; D001369:Axons / Q000473:pathology*; D001927:Brain Diseases / Q000473:pathology; D003937:Diagnosis, Differential; D004576:Electromyography; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009431:Neural Conduction; D010375:Pedigree; D012720:Severity of Illness Index; D013497:Sural Nerve / Q000473:pathology