|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nonmotor symptoms, including impaired cognition (6.1% of SCA2 and 8.3% of SCA3 patients) and depression (9.1% of SCA2 and 8.3% of SCA3 patients), were also common nonataxic features in our SCA patients.
|
31523939 |
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 |
We identified a SCA1 intermediate allele in a MSA-C subject (36 CAG), a SCA2 intermediate allele in a MSA-P patient (31 CAG), and a pathologically expanded SCA2 allele (36 CAG) in a patient initially misdiagnosed as MSA-C. No intermediate or expanded SCA alleles were detected in controls.
|
29715545 |
2018 |
|
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 |
SCA2 is the most frequently reported subtype of SCA related to parkinsonism worldwide.
|
25866756 |
2015 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
Main findings come from a homogeneous SCA type 2 (SCA2) population living in Cuba.
|
24906824 |
2014 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
We analyzed 10 families with SCA (64 patients) from five different communities of Veracruz, a Mexican southeastern state, and identified 55 patients for SCA7 and 9 for SCA2, but none for SCA1, SCA3, or SCA6.
|
23368522 |
2014 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SCA2 mutation carriers had lower SCA functional index scores than did non-carriers (-0·43 [-0·91 to -0·07] vs 0·09 [-0·30 to 0·56]; p=0·0007).
|
23707147 |
2013 |
|
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 |
Our data suggest that the most frequent types of SCA are SCA2 and SCA7.
|
21418439 |
2011 |
|
Cardiac Arrest
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia (SCA) is an autosomal dominantly inherited, progressive ataxia disorder, and SCA type 2 (SCA2) characteristically presents with a highly variable phenotype with multisystemic involvement.
|
19473475 |
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 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 |
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 |
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 |
We examined six patients with Friedreich's ataxia, three patients with spinocerebellar ataxia (SCA) type 1, seven patients with SCA2, 12 patients with SCA3, nine patients with SCA6 and 14 healthy controls.
|
11844730 |
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 |
GeneticVariation
|
disease |
BEFREE |
We clinically and genetically evaluated 73 Italian families with autosomal dominant cerebellar ataxia (ADCA) type I. Spinocerebellar ataxia (SCA) type 1 was the most common genotype (SCA1), accounting for 41% of cases (30 families), SCA2 was slightly less frequent (29%, 21 families), and the remaining families were negative for the SCA1, SCA2, and SCA3 mutations.
|
10399872 |
1999 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated the (CAG)n repeat length of the SCA2 gene in 842 patients with sporadic ataxia and in 96 German families with dominantly inherited SCA which do not harbor the SCA1 or MJD1/SCA3 mutation, respectively.
|
10735276 |
1997 |
|
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 |
|
Cardiac Arrest
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We show that the SCA-2 locus is not a private gene and represents an alternative SCA locus.
|
8178818 |
1994 |