Machado-Joseph disease presenting as severe asymmetric proximal neuropathy.
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.
van Schaik
I N
IN
Department of Neurology, Academic Medical Center, University of Amsterdam, The Netherlands.
Jöbsis
G J
GJ
Vermeulen
M
M
Keizers
H
H
Bolhuis
P A
PA
de Visser
M
M
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