The rare G93D mutation causes a slowly progressing lower motor neuron disease

Gabriella Restagno; Federica Lombardo; Luca Sbaiz; Cristina Mari; Cinzia Gellera; Dario Alimonti; Andrea Calvo; Luisella Tarenzi; Adriano Chiò

doi:10.1080/17482960701788198

The rare G93D mutation causes a slowly progressing lower motor neuron disease

Gabriella Restagno, Federica Lombardo, Luca Sbaiz, Cristina Mari, Cinzia Gellera, Dario Alimonti, Andrea Calvo, Luisella Tarenzi, Adriano Chiò

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article

Abstract

We describe an ALS family with the rare SOD1 G93D mutation. Three members of the family developed ALS at an age ranging from 45 to 71 years. In all cases pyramidal signs were not evident. Two members of the family were obligate gene carriers, and died at 56 and 81 years, respectively, without developing ALS signs or symptoms. The mutation was found in the DNA extracted from the hair bulbs in the two deceased obligate carriers and in another family member who died at 80 years of age without any sign of the disease. This study shows that SOD1 G93D mutation causes a slowly developing lower motor neuron disease with a reduced penetrance.

Original language	English
Pages (from-to)	35-39
Number of pages	5
Journal	Amyotrophic Lateral Sclerosis
Volume	9
Issue number	1
DOIs	https://doi.org/10.1080/17482960701788198
Publication status	Published - 2008

Keywords

G93D mutation
Lower motor neuron disease
Penetrance
SOD1

ASJC Scopus subject areas

Clinical Neurology
Neurology

Access to Document

10.1080/17482960701788198

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abstract = "We describe an ALS family with the rare SOD1 G93D mutation. Three members of the family developed ALS at an age ranging from 45 to 71 years. In all cases pyramidal signs were not evident. Two members of the family were obligate gene carriers, and died at 56 and 81 years, respectively, without developing ALS signs or symptoms. The mutation was found in the DNA extracted from the hair bulbs in the two deceased obligate carriers and in another family member who died at 80 years of age without any sign of the disease. This study shows that SOD1 G93D mutation causes a slowly developing lower motor neuron disease with a reduced penetrance.",

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AU - Restagno, Gabriella

AU - Lombardo, Federica

AU - Sbaiz, Luca

AU - Mari, Cristina

AU - Gellera, Cinzia

AU - Alimonti, Dario

AU - Calvo, Andrea

AU - Tarenzi, Luisella

AU - Chiò, Adriano

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AB - We describe an ALS family with the rare SOD1 G93D mutation. Three members of the family developed ALS at an age ranging from 45 to 71 years. In all cases pyramidal signs were not evident. Two members of the family were obligate gene carriers, and died at 56 and 81 years, respectively, without developing ALS signs or symptoms. The mutation was found in the DNA extracted from the hair bulbs in the two deceased obligate carriers and in another family member who died at 80 years of age without any sign of the disease. This study shows that SOD1 G93D mutation causes a slowly developing lower motor neuron disease with a reduced penetrance.

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