Tags

Type your tag names separated by a space and hit enter

Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.
Brain. 1990 Dec; 113 (Pt 6):1629-43.B

Abstract

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.

Authors+Show Affiliations

Institute of Neurology, University Hospital, Nijmegen, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2276038

Citation

Gabreëls-Festen, A A., et al. "Congenital Demyelinating Motor and Sensory Neuropathy With Focally Folded Myelin Sheaths." Brain : a Journal of Neurology, vol. 113 (Pt 6), 1990, pp. 1629-43.
Gabreëls-Festen AA, Joosten EM, Gabreëls FJ, et al. Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. Brain. 1990;113 (Pt 6):1629-43.
Gabreëls-Festen, A. A., Joosten, E. M., Gabreëls, F. J., Stegeman, D. F., Vos, A. J., & Busch, H. F. (1990). Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. Brain : a Journal of Neurology, 113 (Pt 6), 1629-43.
Gabreëls-Festen AA, et al. Congenital Demyelinating Motor and Sensory Neuropathy With Focally Folded Myelin Sheaths. Brain. 1990;113 (Pt 6):1629-43. PubMed PMID: 2276038.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. AU - Gabreëls-Festen,A A, AU - Joosten,E M, AU - Gabreëls,F J, AU - Stegeman,D F, AU - Vos,A J, AU - Busch,H F, PY - 1990/12/1/pubmed PY - 1990/12/1/medline PY - 1990/12/1/entrez SP - 1629 EP - 43 JF - Brain : a journal of neurology JO - Brain VL - 113 (Pt 6) N2 - 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. SN - 0006-8950 UR - https://www.unboundmedicine.com/medline/citation/2276038/Congenital_demyelinating_motor_and_sensory_neuropathy_with_focally_folded_myelin_sheaths_ L2 - https://academic.oup.com/brain/article-lookup/doi/10.1093/brain/113.6.1629 DB - PRIME DP - Unbound Medicine ER -