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Evidence that Charcot-Marie-Tooth disease with tremor coincides with the Roussy-Levy syndrome

Published online by Cambridge University Press:  18 September 2015

F. Barbieri ,
A. Filla ,
M. Ragno ,
C. Crisci ,
L. Santoro ,
M. Corona  and
G. Campanella
M. Ragno
Affiliation:
Departments of Neurology and Clinical Neurophysiology, School of Veterinary Medicine, University of Naples, Naples, Italy
C. Crisci
Affiliation:
Departments of Neurology and Clinical Neurophysiology, School of Veterinary Medicine, University of Naples, Naples, Italy
L. Santoro
Affiliation:
Departments of Neurology and Clinical Neurophysiology, School of Veterinary Medicine, University of Naples, Naples, Italy
M. Corona
Affiliation:
Second School of Medicine and Laboratory of electron Microscopy, Department of Anatomy, School of Veterinary Medicine, University of Naples, Naples, Italy
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Abstract

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We report data on 3 members of a family affected by a dominantly inherited disorder closely resembling Roussy-Levy syndrome (RLS). Electrophysiological findings showed a marked decrease of motor and sensory conduction velocities and EMG signs of mild neurogenic damage. Light and electron microscopy of sural nerve biopsy showed a hypertrophic neuropathy with diffuse onion-bulb formations and marked decrease of large size fibers. Teased fiber preparations evidenced reduced internodal lengths and segmental demyelination. Other data from the literature on RLS are reviewed and discussed. The hypothesis that RLS is not a disease entity but a hypertrophic-type of Charcot-Marie-Tooth disease with essential tremor (HMSN type 1) is strongly supported.

Type
A—Clinical Studies
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue S4 , November 1984 , pp. 534 - 540
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

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