Cited 13 times since 1997 (0.5 per year) source: EuropePMC Journal of neurology, neurosurgery, and psychiatry, Volume 63, Issue 4, 1 1 1997, Pages 534-536 Machado-Joseph disease presenting as severe asymmetric proximal neuropathy. van Schaik IN, Jöbsis GJ, Vermeulen M, Keizers H, Bolhuis PA, de Visser M
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.
