Familial adult amyotrophic lateral sclerosis: report of cases

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

doi:10.1007/BF02222892

Familial adult amyotrophic lateral sclerosis: report of cases

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

Fondazione "Istituto Neurologico Casimiro Mondino"

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	75-79
Number of pages	5
Journal	Italian Journal of Neurological Sciences
Volume	13
Issue number	1
DOIs	https://doi.org/10.1007/BF02222892
Publication status	Published - 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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10.1007/BF02222892

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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.",

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T2 - report of cases

AU - Maurelli, M.

AU - Marchioni, E.

AU - Bosone, D.

AU - Boni, S.

AU - Bolzani, W.

AU - Cerretano, R.

AU - Simonetti, F.

AU - Savoldi, F.

PY - 1992/2

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AB - 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.

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Familial adult amyotrophic lateral sclerosis: report of cases

Abstract

Keywords

ASJC Scopus subject areas

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