The Italian Journal of Neurological Sciences

, Volume 11, Issue 5, pp 471–479 | Cite as

Hereditary motor and sensory neuropathy type I and type II

  • Sghirlanzoni A. 
  • Pareyson D. 
  • Scaioli V. 
  • Marazzi R. 
  • Pacini L. 
Original Articles

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.

Key-Words

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

Sommario

Allo scopo di distinguere chiaramente in sottogruppi i pazienti affetti da HMSN, abbiamo studiato prospeticamente dal punto di vista clinico, genetico ed elettrofisiologico 128 soggetti: 46 casi indice, 39 parenti affetti e 43 sani. La diagnosi di HMSN I o II è state posta in 77 casi. La distinzione tra I e II tipo è risultata impossibile dal punto di vista clinico, ma lo studio delle velocità di conduzione ha dimostrato una chiara divisione in due popolazioni. Il comportamento delle VCM è risultato omogeneo all'interno delle singole famiglie. L'ereditarietà, autosomica dominante in quasi tutti i casi, è risultata probabilmente recessiva in tre soggetti con HMSN I, mentre l'analisi dell'albero genealogico suggerisce una trasmissione X-linked in un'altra famiglia di I tipo. Non abbiamo trovato linkage con il locus Duffy. In queste neuropatie fenotipi simili possono essere determinati da differenti difetti genici. La presenza di un diffuso rallentamento della conduzione nervosa periferica, evidenziata dal confronto tra velocità di conduzione della risposta Fe VCM del nervo ulnare depone per una patogenesi primitivamente mielinica dell'HMSN I.

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Copyright information

© Masson Italia Periodici 1990

Authors and Affiliations

  • Sghirlanzoni A. 
    • 1
  • Pareyson D. 
    • 1
  • Scaioli V. 
    • 2
  • Marazzi R. 
    • 1
  • Pacini L. 
    • 1
  1. 1.III Divisione di Neurologia Istituto Nazionale Neurologico “C. Besta”Milano
  2. 2.Servizio di Neurofisiopatologia Istituto Nazionale Neurologico “C. Besta”Milano

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