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Correlation of Peripheral Nerve Fiber Loss and Trinucleotide Repeats in Machado-Joseph Disease

Published online by Cambridge University Press:  18 September 2015

Bing-wen Soong  and
Kon-ping Lin
Bing-wen Soong*
Affiliation:
Department of Neurology, National Yang-Ming University School of Medicine and National Defense Medical Center, Taipei, Taiwan, R.O.C. Neurological Institute, Veterans General Hospital-Taipei, Taipei, Taiwan, R.O.C.
Kon-ping Lin
Affiliation:
Neurological Institute, Veterans General Hospital-Taipei, Taipei, Taiwan, R.O.C.
*
Neurological Institute, Veterans General Hospital-Taipei, Taipei, Taiwan, 11217, Republic of China
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Abstract:

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Background:

Machado-Joseph disease (MJD) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia and dystonia. There has been no report of electrophysiological or histological alterations of the peripheral nervous system in patients with MJD.

Methods:

Four patients with MJD were identified by polymerase chain reaction. The peripheral nerves of these patients were subjected to electrophysiological testing and histological study. Correlation analyses were made between various clinical parameters and the electrophysiological and histological changes.

Results:

Electrophysiological studies demonstrated a marked reduction of sensory action potential, acute denervation changes on needle EMG, as well as mild decrease in the compound motor action potential. Light microscopy of the sural nerves revealed clear loss of myelinated fibers, and morphometry studies showed a loss of large myelinated fibers. Moreover, the severity of these pathological changes was found to be related to the CAG repeat length in the MJD gene.

Conclusion:

Our findings indicated that the peripheral nervous system was frequently affected in patients with MJD. These findings were similar to those seen in Friedreich's ataxia, suggesting a loss of sensory and motor fibers probably following a lesion of the dorsal root ganglion and the anterior horns in the spinal cord. Furthermore, the number of CAG repeats seems to have an inverse relationship to the extent of pathological changes of the peripheral nerves.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 25 , Issue 1 , February 1998 , pp. 59 - 63
Copyright
Copyright © Canadian Neurological Sciences Federation 1998

References

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