|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study identifies CYP46A1 as a relevant therapeutic target not only for SCA3 but also for other SCAs.
|
31197505 |
2019 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Focal or segmental dystonia was identified in 4.4% of SCA patients (n = 2 each SCA2 and SCA3).
|
31523939 |
2019 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease (MJD), and rare SCAs that are caused by non-repeat mutations, such as SCA5.
|
30975995 |
2019 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
Olfactory deficits have been reported in other types of ataxias, especially in SCA3; however, there are no studies on olfactory deficits in SCA type 10 (SCA10).
|
29922950 |
2019 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SCA type 3 (SCA3), the most common form of SCA worldwide, is characterized by a CAG triplet expansion in chromosome 14q32.1 ATXN3 gene.
|
30612452 |
2019 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
To characterize the clinical features in patients with spinocerebellar ataxia (SCA) type 1, SCA2, and SCA3 and to evaluate the oculomotor dysfunction by using optokinetic nystagmus (OKN) testing, which may be a sensitive marker.
|
30158163 |
2018 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we demonstrate that coiled-coil structures in the Q repeat region of SCA type 3 (SCA3) polyQ proteins confer protein toxicity in <i>Drosophila</i> neurons.
|
30348793 |
2018 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common dominantly inherited SCA is the type 3 (SCA3), also known as Machado-Joseph disease (MJD), which is an autosomal dominant, progressive neurological disorder.
|
29061563 |
2017 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
Machado-Joseph disease (MJD) is a neurodegenerative spinocerebellar ataxia (SCA) associated with an expanded polyglutamine tract within ataxin-3 for which there is currently no available therapy.
|
28032667 |
2017 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Moreover, cytosolic calcium overload with excessive IP3R1 activity has been implicated in the pathogenesis of other SCAs, including SCA types 2 (SCA2) and 3 (SCA3).
|
26827887 |
2016 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
BE was detected in the majority of patients with SCA3 (65.3%) and could be used with a clinical tool for the differential diagnosis of SCA.
|
23857626 |
2013 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA) - SCA3 (80%), Huntington's disease (11.9%), familial amyloidotic neuropathy (4.3%), SCA1, SCA2, SCA6, or SCA7.
|
21717286 |
2012 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
Results showed the following: the NAA/Cr ratio decreased with increasing age in patients with SCA but not in control subjects; the SARA score increased progressively with age and duration of illness; V-NAA showed a better correlation with SARA score than R-NAA in patients with SCA2 or SCA3; the ratio of age to V-NAA correlated well with CAG repeat number; the retrospectively predicted age of onset for SCA2 and SCA3 was consistent with patient-reported age of onset; R-NAA showed a better correlation with SARA score than V-NAA in patients with SCA6; V-NAA and R-NAA correlated with clinical severity (SARA score) in patients with SCA.
|
23094053 |
2012 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
All 14 individuals with SCA were genotyped as SCA3.
|
22169599 |
2012 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Normal and expanded alleles of ATXN3 were detected via PCR using LA Taq DNA polymerase (better for GC-rich sequences) and denaturing polyacrylamide gel electrophoresis in 150 normal individuals and 138 unrelated probands from autosomal dominant SCA families.
|
20334689 |
2010 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
The manifestations of daytime somnolence and abnormal sleep behavior have been described in SCA type 3 (SCA3) and SCA type 6 (SCA6), but as yet have not been described in SCA type 1 (SCA1).
|
20045119 |
2010 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have created a new SCA-locus-specific variation database (LSVD) that aims to catalog and integrate information on SCAs associated with trinucleotide repeat expansion (SCA1, SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, SCA 12, SCA 17, Friedreich's ataxia [FRDA], and dentatorubral-pallidoluysian atrophy [DRPLA]) from all over the world.
|
19370769 |
2009 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions.
|
18990604 |
2009 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found that SCA3/MJD was the most common type of autosomal dominant SCA in Mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2 (8 [6.7%]), SCA1 (7 [5.8%]), SCA6 (4 [3.3%]), SCA7 (1 [0.8%]), SCA8 (0%), SCA10 (0%), SCA12 (1 [0.8%]), SCA14 (0%), SCA17 (0%) and DRPLA (0%).
|
15979648 |
2005 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SCA3/MJD was the most common type of autosomal dominant SCA in mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2 [8 (6.7%)], SCA1 [7 (5.8%)], SCA6 [4 (3.3%)], SCA7 [1 (0.8%)], SCA8 (0%), SCA10 (0%), SCA12 (0%), SCA14 (0%), SCA17 (0%) and DRPLA (0%).
|
15989765 |
2005 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MJD/SCA3 (46%) was the most common autosomal dominant SCA in the Taiwanese cohort, followed by SCA6 (18%) and SCA1 (3%).
|
14756671 |
2004 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The SCA3/MJD CAG expansion was the most frequent mutation among the SCA patients.
|
15080863 |
2004 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
MJD1/SCA3 is the most common type of spinocerebellar ataxia (SCA) worldwide.
|
14616293 |
2003 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequency of SCA subtypes in autosomal dominant group was: 1) 5.5% for SCA1; 2) 2.4% for SCA2; 3) 27.6% for MJD/SCA3; 4) 25.5% for SCA6; 5) 0.3% for SCA17; and 6) 7.3% for DRPLA.
|
12116198 |
2002 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Machado-Joseph disease-SCA3 was the most common type of autosomal dominant SCA in the Taiwanese cohort, accounting for 35 cases (47.3%), followed by SCA6 (8 [10.8%]), SCA2 (8 [10.8%]), SCA1 (4 [5.4%]), SCA7 (2 [2.7%]), dentatorubropallidoluysian atrophy (1 [1.4%]), and SCA8 (0%).
|
11448300 |
2001 |