Brain, Vol. 113, No. 6, 1629-1643, 1990
© 1990 Guarantors of Brain
research-article |
CONGENITAL DEMYELINATING MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS
1Institute of Neurology, University Hospital Nijmegen 2Department of Neurology, Gelderse Vallei Hospital Ede 3Department of Neurology, University Hospital Rotterdam, The Netherlands
Correspondence to:
Correspondence to: Dr A. A. W. M. Gabre
ls-Festen, Institute of Neurology, University Hospital Nijmegen. Po Box 9101, 6500 HB Nijmegen, The Netherlands.
Six patients (5 index cases and 1 sib) with a congenital motor and sensory neuropathy are described. The clinical, genetic and electrophysiological features resembled Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. Sural nerve biopsy of 5 patients revealed segmental demyelination and remyelination with hypertrophic changes, although onion bulbs were not as ubiquitous as in classical HMSN type III. A striking discriminating feature from HMSN type III was an abundance of focal myelin thickenings (tomacula) present in nearly all teased fibres. Possible pathogenic implications are discussed. These cases corroborate the heterogeneity of congenital motor and sensory neuropathies.
Received June 28, 1989. Revised October 17, 1989. Accepted November 6, 1989.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  N. Brunetti-Pierri, M. B. Bhattacharjee, Z. J. Wang, Zili Chu, D. A. Wenger, L. Potocki, J. Hunter, and F. Scaglia Brain Proton Magnetic Resonance Spectroscopy and Neuromuscular Pathology in a Patient With GM1 Gangliosidosis J Child Neurol, January 1, 2008; 23(1): 73 - 78. [Abstract] [PDF]
|
|
|
|
 |
|
 A. E. Runker, I. Kobsar, T. Fink, G. Loers, T. Tilling, P. Putthoff, C. Wessig, R. Martini, and M. Schachner Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder J. Cell Biol., May 24, 2004; 165(4): 565 - 573. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Sevilla, A. Cuesta, M. J. Chumillas, F. Mayordomo, L. Pedrola, F. Palau, and J. J. Vilchez Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene Brain, September 1, 2003; 126(9): 2023 - 2033. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Houlden, R. H. M. King, N. W. Wood, P. K. Thomas, and M. M. Reilly Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin Brain, May 1, 2001; 124(5): 907 - 915. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Kiwaki, F. Umehara, H. Takashima, M. Nakagawa, K. Kamimura, N. Kashio, Y. Sakamoto, K. Unoki, Y. Nobuhara, K. Michizono, et al. Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma Neurology, August 8, 2000; 55(3): 392 - 397. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S Sander, R A Ouvrier, J G McLeod, G A Nicholson, and J D Pollard Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies J. Neurol. Neurosurg. Psychiatry, April 1, 2000; 68(4): 483 - 488. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Gabreëls-Festen, S. van Beersum, L. Eshuis, E. LeGuern, F. Gabreëls, B. van Engelen, and E. Mariman Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33 J. Neurol. Neurosurg. Psychiatry, May 1, 1999; 66(5): 569 - 574. [Abstract] [Full Text]
|
|
|
|
|
|
L. van der Laan, H. J. ter Laak, A. Gabreels-Festen, F. Gabreels, and R.J.A. Goris Complex regional pain syndrome type I (RSD): Pathology of skeletal muscle and peripheral nerve Neurology, July 1, 1998; 51(1): 20 - 25. [Abstract] [Full Text] [PDF]
|
|