|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Neurodegenerative diseases are associated with accumulation of modified proteins or peptides including amyloid-β (Aβ) in Alzheimer's disease (AD), and misfolded superoxide dismutase-1 (SOD-1) in amyotrophic lateral sclerosis (ALS).
|
22156608 |
2012 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Cu, Zn superoxide dismutase (SOD1) has been implicated in the familial form of the neurodegenerative disease amyotrophic lateral sclerosis (ALS).
|
14623191 |
2003 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
ALS is a devastating neurodegenerative disorder for which no effective treatment exists.
|
16289867 |
2006 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
ALS is a progressive neurodegenerative disorder that affects upper and lower motor neurons.
|
17909153 |
2007 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Superoxide dismutase-1 (SOD1) and ataxin-3 are two neurodegenerative disease proteins in association with familial amyotrophic lateral sclerosis and Machado-Joseph disease/spinocerebellar ataxia type 3.
|
19661182 |
2009 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Superoxide dismutase-1 (SOD1) is a ubiquitous, Cu and Zn binding, free-radical defense enzyme whose misfolding and aggregation play a potential key role in amyotrophic lateral sclerosis, an invariably fatal neurodegenerative disease.
|
23431152 |
2013 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
ALS is a relentlessly progressive neurodegenerative disease and, to date, there are no neuroprotective therapies with significant impact on the disease course.
|
24092880 |
2014 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
SOD1 was also the first gene in which mutations were found to be causative for the neurodegenerative disease amyotrophic lateral sclerosis (ALS), more than 20 years ago.
|
25492944 |
2015 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
ALS is now understood to be a complex multisystem neurodegenerative disease because areas other than the motor cortices of the brain undergo degeneration.
|
28449882 |
2017 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
ALS is a progressive neurodegenerative disease with no curative treatment.
|
28805578 |
2017 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
ALS is a lethal neurodegenerative disease wherein the diagnosis is often delayed.
|
28872909 |
2017 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
ALS is a fatal neurodegenerative disorder of motor neurons leading to progressive atrophy and weakness of muscles.
|
29486297 |
2018 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
SOD1 misfolding and aggregation is correlated with cytotoxicity in neurodegenerative diseases such as amyotrophic lateral sclerosis.
|
30654299 |
2019 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
ALS is an incurable neurodegenerative disorder, with the recommendation that symptom management and palliative care start immediately or soon after diagnosis.
|
31520967 |
2019 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A small proportion, about 2%, is associated with a mutation in the superoxide dismutase (SOD1) gene, and mice expressing this mutant gene exhibit a progressive, ALS-like neurodegenerative disease.
|
17538774 |
2007 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Aberrant accumulation of misfolded Cu, Zn superoxide dismutase (SOD1) is a hallmark of SOD1-associated amyotrophic lateral sclerosis (ALS), an invariably fatal neurodegenerative disease.
|
29666246 |
2018 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Additionally, proteins such as α-synuclein, amyloid-β, tau and SOD1 whose aggregation is associated to neurodegenerative diseases directly bind and impair α3-Na<sup>+</sup>/K<sup>+</sup>-ATPase activity.
|
30550795 |
2018 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although novel ALS genetic variants have been identified, the shared genetic risk between ALS and other neurodegenerative disorders remains poorly understood.
|
29630712 |
2018 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis with associated frontotemporal dementia (ALS/FTD) are major neurodegenerative diseases for which there are no cures.
|
26899735 |
2016 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) is one of the most common neurodegenerative disorders in humans.
|
12441104 |
2002 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) is a neurodegenerative disease characterized by motor neuron degeneration, paralysis and death.
|
15663483 |
2005 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Amyotrophic lateral sclerosis (ALS: Lou Gehrig's Disease) is a lethal neurodegenerative disease of upper and lower motorneurons in the brain and spinal cord.
|
7913294 |
1994 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving the formation of cytoplasmic aggregates by proteins including TDP-43 and SOD1, in affected cells in the central nervous system (CNS).
|
28711596 |
2017 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that has been associated with mutations in metalloenzyme superoxide dismutase (SOD1) causing protein structural destabilization and aggregation.
|
30368622 |
2018 |