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The Italian Journal of Neurological Sciences

, Volume 13, Issue 1, pp 75–79 | Cite as

Familial adult amyotrophic lateral sclerosis: report of cases

  • Maurelli M. 
  • Marchioni E 
  • Bosone D. 
  • Boni S. 
  • Bolzani W. 
  • Cerretano R. 
  • Simonetti F. 
  • Savoldi F. 
Case Reports

Abstract

We examined 8 cases of familial ALS (amyotrophic lateral sclerosis) in three different families from our province, admitted to our hospital between 1970 and 1989. Clinical criteria for diagnosis were satisfied in all cases; EMG was performed in 6 out of 8 patients. 4 cases showed classical onset and 4 cases bulbar onset. The average age at onset was 65.7+10.6 years. The average survival was 19.1+9.2 months. In two families two generations were affected, in the other only one. The mode of transmission was found to be autosomal dominant with variable penetrance. Neither environmental nor toxic factors seemed to be involved in the development of the illness. Genetic investigations may help to elucidate the pathogenesis of familial ALS.

Key Words

Epidemiology province of Pavia familial ALS-sporadic ALS inheritance variable penetrance 

Sommario

Abbiamo esaminato otto casi di SLA familiare (Sclerosi Laterale Amiotrofica) appartenenti a tre diverse famiglie isolate nella nostra provincia e ricoverati nel nostro Istituto tra il 1970 ed il 1989. I criteri clinici di diagnosi sono stati soddisfatti in tutti i casi e l'EMG è stato eseguito in 6 casi su 8. Quattro casi mostravano un esordio di tipo classico e quattro un esordio di tipo bulbare. L'età media di insorgenza della malattia nelle tre famiglie era di 65.7+10.6 anni. La sopravvivenza media era di 19.1+9.2 mesi. La modalità di trasmissione era autosomica dominante con penetranza variabile. In due famiglie erano affetta due diverse generazioni, nella terza famiglia una sola. Fattori ambientali non sembrano essere coinvolti nello sviluppo della malattia. Ulteriori studi genetici potranno far luce sulla patogenesi della SLA familiare.

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Copyright information

© Masson Italia Periodici S.r.l. 1992

Authors and Affiliations

  • Maurelli M. 
    • 1
  • Marchioni E 
    • 1
  • Bosone D. 
    • 1
  • Boni S. 
    • 1
  • Bolzani W. 
    • 1
  • Cerretano R. 
    • 1
  • Simonetti F. 
    • 1
  • Savoldi F. 
    • 1
  1. 1.Istituto Neurologico “C. Mondino”Università di PaviaPavia

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