Hereditary motor and sensory neuropathy type I and type II

A. Sghirlanzoni, D. Pareyson, V. Scaioli, R. Marazzi, L. Pacini

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

In an attempt to clearly identify the different HMSN subgroups, we prospectively evaluated 128 subjects (46 index cases, 39 affected and 43 unaffected relatives) on clinical, genetic and electrophysiological grounds. The diagnosis of HMNS I or II was made in 77 patients. Differential diagnosis between type I and II patients was impossible on clinical grounds alone, but nerve conduction study showed a clearcut subdivision into two populations. MCV behavior was consistent within families. Inheritance, autosomal dominant in almost all cases, was probably recessive in three HMSN I subjects and pedigree analysis pointed to X-linked transmission in one HMSN I family. We found no evidence for linkage to Duffy locus. We think that similar HMSN phenotypes can be determined by different gene defects. Ulnar nerve F-conduction velocity did not significantly differ from distal MCV in HMSN I: the evidence of a diffuse slowing of nerve conduction supports the hypothesis of a primary myelin defect.

Original languageEnglish
Pages (from-to)471-479
Number of pages9
JournalItalian Journal of Neurological Sciences
Volume11
Issue number5
DOIs
Publication statusPublished - Oct 1990

Fingerprint

Charcot-Marie-Tooth Disease
Neural Conduction
Hereditary Sensory and Motor Neuropathy
Ulnar Nerve
Pedigree
Myelin Sheath
Differential Diagnosis
Phenotype
Population
Genes

Keywords

  • Charcot-Marie-Tooth disease
  • hereditary motor and sensory neuropathy
  • Neuropathy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Hereditary motor and sensory neuropathy type I and type II. / Sghirlanzoni, A.; Pareyson, D.; Scaioli, V.; Marazzi, R.; Pacini, L.

In: Italian Journal of Neurological Sciences, Vol. 11, No. 5, 10.1990, p. 471-479.

Research output: Contribution to journalArticle

Sghirlanzoni, A. ; Pareyson, D. ; Scaioli, V. ; Marazzi, R. ; Pacini, L. / Hereditary motor and sensory neuropathy type I and type II. In: Italian Journal of Neurological Sciences. 1990 ; Vol. 11, No. 5. pp. 471-479.
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