|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
The most common spinocerebellar ataxias (SCA)--SCA1, SCA2, SCA3, and SCA6--are caused by (CAG)n repeat expansion.
|
24780882 |
2014 |
|
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 |
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 |
Under these conditions, CAG repeat length determined 64% of onset variability in SCA1, 67% in SCA2, 46% in SCA3, and 41% in SCA6 demonstrating substantial influence of nonrepeat factors on disease onset in all SCA subtypes.
|
18759344 |
2008 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
Memory symptoms occurred across all SCA groups with relative sparing of SCA6.
|
16963595 |
2006 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
SCA6 is the most common SCA in the Kinki district of Japan.
|
12542511 |
2003 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
The disease-free survival curve of SCA6 was different from that of other SCAs and the mean age at onset for SCA6 was found to be later than that of the other types.
|
12116198 |
2002 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, recent advances in the elucidation of SCA pathogenesis provide the opportunity to subclassify the disorders into three discrete groups based on pathogenesis: 1) the polyglutamine disorders, SCAs 1, 2, 3, 7, and 17, which result from proteins with toxic stretches of polyglutamine; 2) the channelopathies, SCA6 and episodic ataxia types 1 and 2 (EA1 and EA2), which result from disruption of calcium or potassium channel function; and 3) the gene expression disorders, SCAs 8, 10, and 12, which result from repeat expansions outside of coding regions that may quantitatively alter gene expression.
|
12169226 |
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 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mild CAG repeat expansions in the alpha(1A) voltage-dependent calcium channel gene are associated with SCA type 6 (SCA6).
|
11708993 |
2001 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation at SCA6 was also the most common form of sporadic SCA at 11%.
|
11359084 |
2001 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To test whether the frequencies of the large normal alleles in SCA1, SCA2 and SCA6 loci can reflect some light on prevalence of the subtypes of SCAs we studied the CAG repeat variation in these loci in nine ethnic sub-populations of eastern India from which the patients originated.
|
10942107 |
2000 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
Friedreich's ataxia accounted for 3% of the latter category of cases in our sample, but the most common causes of SCA were SCA2 and SCA6.
|
9429138 |
1997 |