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Acta Neuropathologica

, Volume 65, Issue 1, pp 1–9 | Cite as

Hereditary motor and sensory neuropathy of demyelinating and remyelinating type in children

Ultrastructural and morphometric studies on sural nerve biopsy specimens from ten sporadic cases
  • C. Nordborg
  • N. Conradi
  • P. Sourander
  • B. Hagberg
  • B. Westerberg
Original Works

Summary

Ten autosomal recessive/sporadic cases of hereditary motor and sensory neuropathy type I (HMSN I), nine of which originated from the northern part of Sweden, were included in the study. Parents were free from neurologic symptoms. Motor and sensory conduction velocity was normal when recorded, i.e., in 19 and 17 parents, respectively. Sural nerve biopsies from the ten cases revealed a varying degree of onion bulb formation. In eight of the cases the onion bulbs consisted of abundant basement membranes, whereas the Schwann cells were few and sometimes lacking. There were in some cases considerable differences between separate fascicles as to the loss of myelinated nerve fibers. In the six biopsies in which teasing was performed signs of present and previous demyelination were noticed. Numerous internodal segments were abnormally thin with reference to their length. In many such segments there were marked local thickenings of the nerve fiber. In cross sections the probable counterparts to these thickenings were nerve fibers with unduly thick myelin sheaths and complex folding of the myelin. Ultrastructural axonal changes were seen in the majority of the cases. The pathogenetic and diagnostic implications of the present findings are discussed.

Key words

Polyneuropathy Hereditary disease Chiloren Sural nerve biopsy Electron microscopy Morphometry 

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Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • C. Nordborg
    • 1
  • N. Conradi
    • 1
  • P. Sourander
    • 1
  • B. Hagberg
    • 2
  • B. Westerberg
    • 2
  1. 1.Division of Neuropathology, Dept. of PathologyUniversity of Göteborg, Sahlgren HospitalGöteborgSweden
  2. 2.Dept. II of PediatricsUniversity of Göteborg, East HospitalGöteborgSweden

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