Familial adult amyotrophic lateral sclerosis: report of cases

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)75-79
Number of pages5
JournalItalian Journal of Neurological Sciences
Volume13
Issue number1
DOIs
Publication statusPublished - Feb 1992

Keywords

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

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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