|
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 |
In this study, we observed higher copeptin level, lower percentage share of cholesterol HDL4 subfraction and higher percentage share of small HDL particles subfraction in HD patients with diabetes mellitus than in those without diabetes.
|
28814234 |
2018 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
First, SCA17 shows a complex and variable clinical phenotype, in some cases overlapping that of Huntington's disease.
|
29427105 |
2018 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We also show for the first time that TFIID complex formation is reduced, while soluble TBP is increased in an HD model.
|
28153533 |
2017 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families.
|
24102565 |
2014 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We further determined that the downregulation of TBP activity enhances retinal degeneration in SCA3 and Huntington's disease fly models, indicating that the deactivation of TBP is likely to play a common role in polyQ-induced neurodegeneration.
|
25104854 |
2014 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We screened a cohort of 181 patients with features of primary progressive ataxia and chorea for spinocerebellar ataxias 17 (SCA17) mutation after excluding other known SCAs, Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), and non-genetic causes.
|
21108634 |
2011 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conclude that, however rare, SCA17 must be considered as a cause of Huntington's disease-like phenotypes and ataxia syndromes, also in isolated cases.
|
19595623 |
2010 |
|
Huntington Disease
|
0.100 |
Biomarker
|
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 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of DNA from 224 individuals suspected of HD (117 women and 107 men) revealed one case of dynamic mutation - 55 CAG repeats - in the TBP locus (SCA17).
|
18651325 |
2008 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although some of the factors have been defined as genetic modifier factors in previous studies, none of the genes encoding GRIK2, TBP, BDNF and ZDHHC17 could be identified as a genetic modifier for HD.
|
16847693 |
2006 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
SCA17 homozygote showing Huntington's disease-like phenotype.
|
14755733 |
2004 |
|
Huntington Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with expansions in the TBP or JPH3 genes had HDL phenotypes indistinguishable from Huntington's disease.
|
12805114 |
2003 |
|
Huntington Disease
|
0.100 |
Biomarker
|
disease |
LHGDN |
Insoluble TATA-binding protein accumulation in Huntington's disease cortex.
|
12531510 |
2002 |