CONGENITAL DEMYELINATING MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS

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 segment...

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Bibliographic Details
Published in:Brain (London, England : 1878) England : 1878), 1990-12, Vol.113 (6), p.1629-1643
Main Authors: GABREËLS-FESTEN, A. A. W. M., JOOSTEN, E. M. G., GABREËLS, F. J. M., STEGEMAN, D. F., VOS, A. J. M., BUSCH, H. F. M.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Axons - ultrastructure
Biological and medical sciences
Child, Preschool
Demyelinating Diseases - genetics
Demyelinating Diseases - pathology
Demyelinating Diseases - physiopathology
Female
Follow-Up Studies
Humans
Male
Medical sciences
Microscopy, Electron
Middle Aged
Motor Neurons - pathology
Motor Neurons - physiology
Nerve Fibers, Myelinated - ultrastructure
Neurology
Neuromuscular Diseases - genetics
Neuromuscular Diseases - pathology
Neuromuscular Diseases - physiopathology
Neurons, Afferent - pathology
Neurons, Afferent - physiology
Sural Nerve - pathology
Sural Nerve - physiopathology
Sural Nerve - ultrastructure
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Summary: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.
ISSN:0006-8950
1460-2156
DOI:10.1093/brain/113.6.1629