Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Huntington's disease is an autosomal dominant neurodegenerative disorder associated with progressive motor and cognitive impairments, and the expansion of a cysteine-adenine-guanine trinucleotide (polyglutamine) repeats in exon one of the human huntingtin gene.
|
30837611 |
2019 |
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Formation of aggregates of mutant huntingtin (mHTT, the product of the mutant HTT gene) leads to cellular dysfunctions, and subsequent neurodegeneration which manifest clinically as motor abnormalities and cognitive deficits.
|
30850940 |
2019 |
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The accumulation of mutated huntingtin leads to loss of GABAergic medium spiny neurons (MSNs); subsequently resulting in the development of chorea, cognitive dysfunction and psychiatric symptoms.
|
30409256 |
2019 |
Impaired cognition
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Intravenous immunoglobulin ameliorates motor and cognitive deficits and neuropathology in R6/2 mouse model of Huntington's disease by decreasing mutant huntingtin protein level and normalizing NF-κB signaling pathway.
|
29902468 |
2018 |
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
The product of the mutated gene is misfolded huntingtin protein that forms aggregates leading to impairment of neuronal function, neurodegeneration, motor abnormalities and cognitive deficits.
|
29435951 |
2018 |
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
The results suggest that ASOs specifically targeting mutated <i>HTT</i> might have therapeutic effects on HD-mediated cognitive impairments.
|
30282695 |
2018 |
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Huntington's disease (HD) is a genetic disease caused by a CAG trinucleotide repeat expansion encoding a polyglutamine tract in the huntingtin (HTT) protein, ultimately leading to neuronal loss and consequent cognitive decline and death.
|
26428929 |
2016 |
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The cascade of events that lead to cognitive decline, motor deficits, and psychiatric symptoms in patients with Huntington disease (HD) is triggered by a polyglutamine expansion in the N-terminal region of the huntingtin (HTT) protein.
|
26025364 |
2015 |
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
Huntington disease (HD), an autosomal dominant disorder involving HTT, is characterized by chorea, psychiatric illness and cognitive decline.
|
24405192 |
2015 |
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in the amino-terminal region of the huntingtin protein (htt), leading to motor dysfunction, cognitive decline, psychiatric alterations, and death.
|
25160573 |
2015 |
Impaired cognition
|
0.100 |
Biomarker
|
disease |
BEFREE |
Huntington's disease (HD) is a late-onset fatal neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the gene coding for the protein huntingtin and is characterised by progressive motor, psychiatric and cognitive decline.
|
25871323 |
2015 |
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that mutant huntingtin is implicated in maladaptive synaptic plasticity, which could be one of the plausible mechanisms underlying early cognitive deficits in HD.
|
25568121 |
2015 |
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The disease is caused by abnormal expansion of CAG repeats in the gene encoding huntingtin, but how mutant huntingtin leads to early cognitive deficits in HD is poorly understood.
|
22787151 |
2012 |
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Huntington's disease (HD), caused by a CAG repeat expansion in the huntingtin (HTT) gene, is characterized by abnormal protein aggregates and motor and cognitive dysfunction.
|
21177255 |
2011 |
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Huntington disease is a genetic neurodegenerative disorder that produces motor, neuropsychiatric, and cognitive deficits and is caused by an abnormal expansion of the CAG tract in the huntingtin (htt) gene.
|
19244517 |
2009 |