|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Five to 10% of amyotrophic lateral sclerosis (ALS) cases are reported to be familial (FALS), and mutations of SOD1 account for 20% of these cases.
|
18268245 |
2008 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Distinct conformers of transmissible misfolded SOD1 distinguish human SOD1-FALS from other forms of familial and sporadic ALS.
|
27704280 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Transgenic mouse models of human SOD1 mutations have opened up an area of intense investigation into the pathogenesis of familial and sporadic amyotrophic lateral sclerosis (ALS).
|
20176600 |
2010 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An intersubunit disulfide bond prevents in vitro aggregation of a superoxide dismutase-1 mutant linked to familial amytrophic lateral sclerosis.
|
15109247 |
2004 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results support the feasibility of utilizing siRNA-based gene therapy of familial ALS with mutant SOD1.
|
14715277 |
2004 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Cu, Zn superoxide dismutase (SOD1) are one cause for the familial form of this disease.
|
12864925 |
2003 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia).
|
31702461 |
2019 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
In amyotrophic lateral sclerosis (ALS) patients with known genetic cause, mutations in chromosome 9 open reading frame 72 (C9orf72) and superoxide dismutase 1 (SOD1) account for most familial and late-onset sporadic cases, whereas mutations in fused in sarcoma (FUS) can be identified in just around 5% of familial and 1% of overall sporadic cases.
|
26362943 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium.
|
10439968 |
1999 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SOD1 gene encoding the superoxide dismutase 1 are present in 15% of familial ALS cases and in 2% of sporadic cases.
|
26605782 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified four mutations, two of which were novel, in two familial (FALS) and two sporadic (SALS) cases, giving a frequency of TARDBP mutations in non-SOD1 FALS of 5% and SALS of 0.4%.
|
19760257 |
2010 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Cu(2+)/Zn(2+) superoxide dismutase 1 (SOD1) gene underlie 14-23 % of familial and 1-7 % of sporadic cases of amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease characterized by a specific loss of motor neurons in the brain and spinal cord.
|
25482048 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, emerging research has demonstrated that mutations and pathology associated with the TDP-43 gene and protein may be more common than SOD1 mutations in familial and sporadic ALS.
|
19191304 |
2009 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated TDP-43 in a larger series of ALS cases (n = 111), including familial cases with and without SOD1 mutations.
|
17469116 |
2007 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent reports that neuronal death in SOD1-familial ALS is apoptotic have not documented activation of cell death genes.
|
9861044 |
1998 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated Saudi patients with familial and sporadic Keratoconus for mutations in the Superoxide dismutase 1, soluble (SOD1) gene.
|
24547927 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although the precise pathogenesis of ALS remains unclear, mutations in Cu/Zn superoxide dismutase (SOD1) account for approximately 20-25% of familial ALS cases, and transgenic mice overexpressing human mutant SOD1 develop an ALS-like phenotype.
|
15911875 |
2005 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Expression of hepatocyte growth factor and c-Met in the anterior horn cells of the spinal cord in the patients with amyotrophic lateral sclerosis (ALS): immunohistochemical studies on sporadic ALS and familial ALS with superoxide dismutase 1 gene mutation.
|
12707786 |
2003 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Transgenic mice that model familial (f)ALS, caused by mutations in superoxide dismutase (SOD)1, develop paralysis with pathology that includes the accumulation of aggregated forms of the mutant protein.
|
19416874 |
2009 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The whole-cell configuration of the patch-clamp recording was used to study the voltage-dependent Na+ currents in a model system for the familial form of amyotrophic lateral sclerosis (ALS) associated with mutations in Cu,Zn superoxide dismutase.
|
9855309 |
1998 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Cognitive impairment in familial ALS.
|
17909153 |
2007 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conclude that absence of CNTF does not increase susceptibility for these disorders and confirm that it does not affect onset and course of familial and sporadic ALS.
|
17651970 |
2007 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in copper-zinc superoxide dismutase (SOD1) have been linked to a subset of familial amytrophic lateral sclerosis (fALS), a fatal neurodegenerative disease characterized by progressive motor neuron death.
|
15501831 |
2004 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have studied the distribution of cyclin dependent kinase-5 (cdk-5) within spinal cord in sporadic and two superoxide dismutase type 1 (SOD1) familial cases of amyotrophic lateral sclerosis (ALS).
|
9596352 |
1998 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although most cases of ALS are sporadic, about 5-10% of cases are familial (FALS) with approximately 20% of FALS caused by mutations in the Cu/Zn superoxide dismutase (SOD1) gene.
|
25763819 |
2015 |