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Machado-Joseph disease presenting as severe asymmetric proximal neuropathy
  1. I N van Schaik,
  2. G J Jöbsis,
  3. M Vermeulen,
  4. H Keizers,
  5. P A Bolhuis,
  6. M de Visser
  1. Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  1. Dr G J Jöbsis, Department of Neurology, H2-214, Academic Medical Center, PO box 22700, 1100 DE Amsterdam, The Netherlands.


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.

  • neuropathy
  • Machado-Joseph disease
  • SCA3
  • trinucleotide repeat expansion

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