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

Research output: Contribution to journalArticle

13 Citations (Scopus)

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 languageEnglish
Pages (from-to)35-39
Number of pages5
JournalAmyotrophic Lateral Sclerosis
Volume9
Issue number1
DOIs
Publication statusPublished - 2008

Fingerprint

Motor Neuron Disease
Mutation
Penetrance
Hair
Signs and Symptoms
DNA
Genes

Keywords

  • G93D mutation
  • Lower motor neuron disease
  • Penetrance
  • SOD1

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

The rare G93D mutation causes a slowly progressing lower motor neuron disease. / Restagno, Gabriella; Lombardo, Federica; Sbaiz, Luca; Mari, Cristina; Gellera, Cinzia; Alimonti, Dario; Calvo, Andrea; Tarenzi, Luisella; Chiò, Adriano.

In: Amyotrophic Lateral Sclerosis, Vol. 9, No. 1, 2008, p. 35-39.

Research output: Contribution to journalArticle

Restagno, G, Lombardo, F, Sbaiz, L, Mari, C, Gellera, C, Alimonti, D, Calvo, A, Tarenzi, L & Chiò, A 2008, 'The rare G93D mutation causes a slowly progressing lower motor neuron disease', Amyotrophic Lateral Sclerosis, vol. 9, no. 1, pp. 35-39. https://doi.org/10.1080/17482960701788198
Restagno, Gabriella ; Lombardo, Federica ; Sbaiz, Luca ; Mari, Cristina ; Gellera, Cinzia ; Alimonti, Dario ; Calvo, Andrea ; Tarenzi, Luisella ; Chiò, Adriano. / The rare G93D mutation causes a slowly progressing lower motor neuron disease. In: Amyotrophic Lateral Sclerosis. 2008 ; Vol. 9, No. 1. pp. 35-39.
@article{2a5c7bdc4f6f41beb29c6f22082b1908,
title = "The rare G93D mutation causes a slowly progressing lower motor neuron disease",
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.",
keywords = "G93D mutation, Lower motor neuron disease, Penetrance, SOD1",
author = "Gabriella Restagno and Federica Lombardo and Luca Sbaiz and Cristina Mari and Cinzia Gellera and Dario Alimonti and Andrea Calvo and Luisella Tarenzi and Adriano Chi{\`o}",
year = "2008",
doi = "10.1080/17482960701788198",
language = "English",
volume = "9",
pages = "35--39",
journal = "Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders",
issn = "1466-0822",
publisher = "Informa Healthcare",
number = "1",

}

TY - JOUR

T1 - The rare G93D mutation causes a slowly progressing lower motor neuron disease

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

PY - 2008

Y1 - 2008

N2 - 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.

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.

KW - G93D mutation

KW - Lower motor neuron disease

KW - Penetrance

KW - SOD1

UR - http://www.scopus.com/inward/record.url?scp=39349098032&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=39349098032&partnerID=8YFLogxK

U2 - 10.1080/17482960701788198

DO - 10.1080/17482960701788198

M3 - Article

VL - 9

SP - 35

EP - 39

JO - Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

JF - Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

SN - 1466-0822

IS - 1

ER -