Machado-Joseph disease presenting as severe asymmetric proximal neuropathy
- Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
- Dr G J Jöbsis, Department of Neurology, H2-214, Academic Medical Center, PO box 22700, 1100 DE Amsterdam, The Netherlands.
- Received 31 January 1997
- Revised 6 April 1997
- Accepted 2 May 1997
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.
