Short report
Age related axonal neuropathy in spinocerebellar ataxia type
3/Machado-Joseph disease (SCA3/MJD)
a Department of
Neurology, University of Tübingen, Tübingen, Germany, b Department of
Neurology, University of Bochum, Bochum, Germany, c Institute of Medical
Information Processing, University of Tübingen, Tübingen, Germany, d Department
of Molecular Human Genetics, University of Bochum, Bochum, Germany, e Department of Human Genetics,
University of Göttingen, Göttingen. Germany
Correspondence to: Dr T Klockgether, Department of Neurology, University of Bonn, Sigmund-Freud-Str. 25, D-53105 Bonn, Germany.
Received 17 April 1998;
Accepted 24 July 1998
To identify determinants of peripheral involvement in
spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) the influence of CAG repeat length, age of onset, disease duration and age
on the results of nerve conduction studies was analysed in 58 patients
with SCA3/MJD. Patients with SCA3/MJD showed marked reduction of
compound muscle action potential (CMAP) and sensory nerve action
potential (SNAP) amplitudes indicating axonal neuropathy of both motor
and sensory fibres. In addition, there was moderate slowing of nerve
conduction suggestive of mild peripheral demyelination. Multivariate
regression showed that CMAP and SNAP amplitudes decreased with age, but
were not affected by CAG repeat length, age of onset, or disease
duration. The age related decline of CMAP and SNAP amplitudes in
SCA3/MJD was greater than in normal subjects. The data suggest that the
degree of peripheral damage in SCA3/MJD does not depend on CAG repeat
length, age of onset, or disease duration, but is mainly related to the
time period over which the SCA3/MJD mutation exerts its effect.
© 1999 by Journal of Neurology, Neurosurgery, and Psychiatry
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