Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA), and six spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17).
|
31669734 |
2020 |
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
PolyQ (polyglutamine) diseases such as HD (Huntington's disease) or SCA1 (spinocerebellar ataxia type 1) are neurodegenerative disorders caused by abnormally elongated polyQ tracts in human proteins.
|
25131594 |
2014 |
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
They include at least nine disorders, including Huntington's disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), spinal and bulbar muscular atrophy (SBMA), and the spinocerebellar ataxias SCA1, SCA2, SCA3 (also known as Machado-Joseph disease), SCA6, SCA7, and SCA17.
|
17786457 |
2008 |
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar Ataxia type 1 (SCA1) and Huntington's disease (HD) are two polyglutamine disorders caused by expansion of a CAG repeat within the coding regions of the Ataxin-1 and Huntingtin proteins, respectively.
|
17984172 |
2008 |
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
There is growing evidence that neuronal electrophysiological properties are altered in a variety of polyglutamine diseases such as Huntington's disease and SCA1 and that these alterations may contribute to disturbances of neuronal function prior to neurodegeneration.
|
16765348 |
2006 |
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The augmentation is specific, as it occurs with mHtt but not mutant ataxin-1 with expanded polyQ. p53 levels are also increased in the brains of mHtt transgenic (mHtt-Tg) mice and HD patients.
|
15996546 |
2005 |
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We analyzed the SCA1 CAG repeat length in a large sample of Huntington's disease (n=182), myotonic dystrophy type 1 (n=64) and SCA3 (n=31) patients.
|
15167689 |
2004 |
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
They underwent the following examinations: cupremia, cupruria, and level of ceruloplasmin, genetic analysis for SCA1, 2, 3, 6, dentato-rubric-pallido-luysian atrophy, and Huntington's disease, electromyography (EMG), electroencephalography (EEG), brain magnetic resonance imaging (MRI), and investigation of acanthocytes with scanning electron microscopy.
|
14598080 |
2003 |
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, the transglutaminase activity has been hypothesized to be involved in the pathogenetic mechanisms responsible for the formation of cellular inclusions present in Huntington disease and in all the other polyglutamine (polyQ) diseases hitherto identified, such as spinobulbar muscular atrophy or Kennedy disease, spinocerebellar ataxias (SCA-1, SCA-2, SCA-3 or Machado-Joseph disease, SCA-6 and SCA-7) and dentatorubropallidoluysian atrophy.
|
11719247 |
2002 |
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus the androgen receptor is one of a growing number of neurodegenerative disease-associated proteins, including huntingtin (Huntington's disease), ataxin-1 (spinocerebellar ataxia, type 1) and ataxin-3 (spinocerebellar ataxia, type 3), which show expansion of CAG triplet repeats.
|
11356158 |
2001 |
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Huntington's disease (HD), spinocerebellar ataxias types 1 and 3 (SCA1, SCA3), and spinobulbar muscular atrophy (SBMA) are caused by CAG/polyglutamine expansion mutations.
|
10717003 |
2000 |
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
At least nine disorders result from a CAG trinucleotide repeat expansion which is translated into a polyglutamine stretch in the respective proteins: Huntington's disease (HD), dentatorubral pallidolysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA), and several of the spinocerebellar ataxias (SCA1, 2, 3, 6, 7 and 12).
|
10928291 |
2000 |
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular tests were performed including genetic analysis for SCA1, 2, and 3 (spinocerebellar ataxias), Huntington's disease (HD) and DRPLA, due to a possible overlapping in clinical presentation.
|
9858102 |
1998 |
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Experiments in HD and SCA1 transgenic mice suggest a correlation between phenotypic severity and expression of the mutant transgene.
|
9536082 |
1998 |
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The differences in SCA1 allele heterogeneity between sperm and blood and within the brain parallels the findings in Huntington disease, suggesting that both disorders share a common mechanism for tissue-specific instability.
|
7670474 |
1995 |