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 | |
| Publication status | Published - 2008 |
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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 journal › Article
}
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
C2 - 18273717
AN - SCOPUS:39349098032
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 -