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The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.
Brain. 1987 Feb; 110 (Pt 1):121-48.B

Abstract

The clinical and histopathological features in sural nerve biopsies from 10 cases of dominantly inherited hypertrophic Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy (HMSN), type I) presenting in childhood are contrasted with those of 6 cases of Dejerine-Sottas disease (HMSN type III). There was a significantly greater incidence of ataxia, areflexia and clinical nerve enlargement in HMSN type III. In HMSN type III, there was also a significantly lower density of myelinated fibres 8 microns or more in diameter, a greater frequency of onion bulbs, more lamellae per onion bulb and, a higher ratio of mean axon diameter to fibre diameter. The functional severity of the HMSN type III cases was not markedly worse than those with HMSN type I. Using these parameters, it was possible to attempt classification of sporadic cases of hereditary motor and sensory neuropathy. Cerebrospinal fluid protein levels were unreliable in distinguishing the two types of neuropathy.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3467805

Citation

Ouvrier, R A., et al. "The Hypertrophic Forms of Hereditary Motor and Sensory Neuropathy. a Study of Hypertrophic Charcot-Marie-Tooth Disease (HMSN Type I) and Dejerine-Sottas Disease (HMSN Type III) in Childhood." Brain : a Journal of Neurology, vol. 110 (Pt 1), 1987, pp. 121-48.
Ouvrier RA, McLeod JG, Conchin TE. The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain. 1987;110 (Pt 1):121-48.
Ouvrier, R. A., McLeod, J. G., & Conchin, T. E. (1987). The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain : a Journal of Neurology, 110 (Pt 1), 121-48.
Ouvrier RA, McLeod JG, Conchin TE. The Hypertrophic Forms of Hereditary Motor and Sensory Neuropathy. a Study of Hypertrophic Charcot-Marie-Tooth Disease (HMSN Type I) and Dejerine-Sottas Disease (HMSN Type III) in Childhood. Brain. 1987;110 (Pt 1):121-48. PubMed PMID: 3467805.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. AU - Ouvrier,R A, AU - McLeod,J G, AU - Conchin,T E, PY - 1987/2/1/pubmed PY - 1987/2/1/medline PY - 1987/2/1/entrez SP - 121 EP - 48 JF - Brain : a journal of neurology JO - Brain VL - 110 (Pt 1) N2 - The clinical and histopathological features in sural nerve biopsies from 10 cases of dominantly inherited hypertrophic Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy (HMSN), type I) presenting in childhood are contrasted with those of 6 cases of Dejerine-Sottas disease (HMSN type III). There was a significantly greater incidence of ataxia, areflexia and clinical nerve enlargement in HMSN type III. In HMSN type III, there was also a significantly lower density of myelinated fibres 8 microns or more in diameter, a greater frequency of onion bulbs, more lamellae per onion bulb and, a higher ratio of mean axon diameter to fibre diameter. The functional severity of the HMSN type III cases was not markedly worse than those with HMSN type I. Using these parameters, it was possible to attempt classification of sporadic cases of hereditary motor and sensory neuropathy. Cerebrospinal fluid protein levels were unreliable in distinguishing the two types of neuropathy. SN - 0006-8950 UR - https://www.unboundmedicine.com/medline/citation/3467805/The_hypertrophic_forms_of_hereditary_motor_and_sensory_neuropathy__A_study_of_hypertrophic_Charcot_Marie_Tooth_disease__HMSN_type_I__and_Dejerine_Sottas_disease__HMSN_type_III__in_childhood_ L2 - https://academic.oup.com/brain/article-lookup/doi/10.1093/brain/110.1.121 DB - PRIME DP - Unbound Medicine ER -