|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While most cases of ALS are sporadic, 10% are familial (FALS) with 20% of FALS caused by a mutation in the gene that codes for the enzyme Cu/Zn superoxide dismutase (SOD1).
|
24945277 |
2014 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase ( SOD1 ), which catalyses the dismutation of the superoxide radical to hydrogen peroxide and oxygen.
|
9817920 |
1998 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There is substantial evidence implicating oxidative stress as a central mechanism by which motor neuron death occurs, including elevated markers of oxidative damage in ALS patient spinal cord and cerebrospinal fluid and mutations in the antioxidant enzyme superoxide dismutase 1 (SOD1) causing approximately 20% of familial ALS cases.
|
19969067 |
2010 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Aggregation of copper-zinc superoxide dismutase (SOD1) is a defining feature of familial ALS caused by inherited mutations in the sod1 gene, and misfolded and aggregated forms of wild-type SOD1 are found in both sporadic and familial ALS cases.
|
26511321 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated the substantia nigra (SN) in MND cases; two cases of motor neurone disease inclusion body (MND-IB) dementia, six cases of DMND, 14 cases of MND (including one case from Guam and two cases of familial SOD1 mutation), four cases of Parkinson's disease (PD), and 10 cases of age-matched normal controls.
|
11972798 |
2002 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
About 10% of cases are familial and 20% of these families have point mutations in the Cu/Zn superoxide dismutase 1 (SOD-1) gene.
|
22272128 |
2011 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two new prosurvival pathways have been recently demonstrated to antagonize neurotoxicity by familial ALS-linked mutant Cu/Zn-superoxide dismutase (FSOD1).
|
16909018 |
2005 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.
|
8909456 |
1996 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey.
|
25681989 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Approximately 10% of all familial cases of amyotrophic lateral sclerosis (fALS) are linked to mutations in the SOD1 gene, which encodes the copper/zinc superoxide dismutase (CuZnSOD).
|
11513882 |
2001 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although the etiology of ALS remains unknown, a mutation of the gene encoding Cu,Zn-superoxide dismutase (SOD1) has been reported in 20% of familial cases of ALS (FALS).
|
16412993 |
2006 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
French TARDBP+ patients with ALS (n = 28) were compared first to 3 cohorts: 737 sporadic ALS (SALS), 192 nonmutated familial ALS (FALS), and 58 SOD1 + FALS, and then to 117 TARDBP+ cases from the literature.
|
22539580 |
2012 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This review highlights recent epidemiologic, clinical-genetic, and neurochemical advances in our understanding of sporadic amyotrophic lateral sclerosis (ALS) and their relationships to familial ALS caused by superoxide dismutase (SOD1) gene mutations.
|
16469270 |
2006 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular genetic basis of familial ALS.
|
8858048 |
1996 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial (FALS), and approximately 25% of FALS cases are caused by mutations in superoxide dismutase-1 (SOD1).
|
16084730 |
2006 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of amyotrophic lateral sclerosis (ALS) with exclusively lower motor neuron disease and is responsible for 50% of SOD1 mutations associated with familial ALS in North America.This mutation is rare in Europe.
|
19176896 |
2009 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report a heterozygous I113F mutation in a patient with familial ALS characterized by early and predominant bilateral vocal cord paralysis followed by descending spinal cord paresis.
|
21413851 |
2011 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The superoxide dismutase 1(G93A G1H) (SOD1(G93A G1H)) transgenic mouse is a model of familial human amyotrophic lateral sclerosis (ALS) that has progressive neurodegeneration within the spinal cord and brainstem.
|
17439705 |
2007 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previous genetic studies discovered >180 different mutations in the SOD1 gene that caused familial (inherited) amyotrophic lateral sclerosis (fALS).
|
28558143 |
2017 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in copper-zinc superoxide dismutase gene (SOD1) have been linked to some familial cases of ALS.
|
16382787 |
2005 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in superoxide dismutase 1 (SOD1) cause amyotrophic lateral sclerosis (ALS) in 20% of familial cases (fALS).
|
23843527 |
2013 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SOD1 gene cause a subset of familial ALS by a gain of toxicity.
|
24108104 |
2014 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in superoxide dismutase 1 (SOD1) cause familial forms of amyotrophic lateral sclerosis (fALS).
|
25121776 |
2014 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the gene SOD-1, which encodes the enzyme copper-zinc superoxide dismutase, occur in patients with a familial form of amyotrophic lateral sclerosis (ALS).
|
9065559 |
1997 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The proportion of fALS was lower than that reported in Caucasian populations but the frequency of SOD1 gene mutations in Korean fALS patients (77.8%, 7/9) was much higher than that reported in other ethnic groups.
|
22244934 |
2012 |