Machado-Joseph disease presenting as severe asymmetric proximal neuropathy. Issue 4 (1st October 1997)

• Record Type: Journal Article
• Authors: van Schaik, I N; Jöbsis, G J; Vermeulen, M; Keizers, H; Bolhuis, P A; de Visser, M
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 63:Issue 4(1997)
• Page Start: 534
• Page End: 536
• Publication Date: 1997-10-01
• Subjects: neuropathy -- Machado-Joseph disease -- SCA3 -- trinucleotide repeat expansion; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.63.4.534
• Languages: English
• ISSNs: 0022-3050

Abstract

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.