|
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar muscular atrophy.
|
30933216 |
2019 |
|
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Simulation Based Investigation of Deleterious nsSNPs in ATXN2 Gene and Its Structural Consequence Toward Spinocerebellar Ataxia.
|
28612427 |
2018 |
|
Ataxia, Spinocerebellar
|
0.400 |
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 |
|
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have identified the RNA-binding protein Ataxin-2 as a genetic determinant or risk factor for various diseases including spinocerebellar ataxia type II (SCA2) and amyotrophic lateral sclerosis (ALS), amongst others.
|
28587229 |
2017 |
|
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia (SCA-2) type-2 is a rare neurological disorder among the nine polyglutamine disorders, mainly caused by polyQ (CAG) trinucleotide repeats expansion within gene coding ataxin-2 protein.
|
28119557 |
2016 |
|
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
|
26077168 |
2015 |
|
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
See Klockgether (doi:10.1093/awv253) for a scientific commentary on this article.The spinocerebellar ataxias types 2 (SCA2) and 3 (SCA3) are autosomal dominantly inherited cerebellar ataxias which are caused by CAG trinucleotide repeat expansions in the coding regions of the disease-specific genes.
|
26362908 |
2015 |
|
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
About 50 % of Thai patients with adult-onset spinocerebellar ataxia (SCA) was Machado-Joseph disease (MJD), SCA1, SCA2 and SCA6.
|
26374734 |
2015 |
|
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for loci PRNP (prion protein, HDL1), JPH3 (HDL2), ATN1 (dentatorubral-pallidoluysian atrophy), ATX2 (spinocerebellar ataxia 2) ATXN3 (spinocerebellar ataxia 3), and TBP (spinocerebellar ataxia 17=HDL4).
|
22971727 |
2013 |
|
Ataxia, Spinocerebellar
|
0.400 |
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 |
|
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with SCA-ataxia (SCA2, SCA3) and Mito-ataxia (MELAS, MERRF, LHON, maternal inherited hearing impairment mtDNA A1555G mutation) were recruited in this study.
|
23031666 |
2012 |
|
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Multimodal neurophysiological study of SCA2 and SCA3 autosomal dominant hereditary spinocerebellar ataxias.
|
21163215 |
2011 |
|
Ataxia, Spinocerebellar
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Mutations in many of these RBPs are associated with neurological diseases, including FMRP in fragile X syndrome; TDP-43, FUS (fused in sarcoma), angiogenin, and ataxin-2 in amyotrophic lateral sclerosis; ataxin-2 in spinocerebellar ataxia; and SMN (survival of motor neuron protein) in spinal muscular atrophy.
|
22072660 |
2011 |
|
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
CTD_human |
Levodopa-induced dyskinesias in spinocerebellar ataxia type 2.
|
20065139 |
2010 |
|
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin.
|
19429075 |
2009 |
|
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
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 |
|
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
CTD_human |
Phenotype variability in spinocerebellar ataxia type 2: a longitudinal family survey and a case featuring an unusual benign course of disease.
|
19224595 |
2009 |
|
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
LHGDN |
Spinocerebellar ataxia type 2 in a Turkish family.
|
17715286 |
2007 |
|
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
LHGDN |
Gene dosage influences the age at onset of SCA2 in a family from southern Italy.
|
17850638 |
2007 |
|
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
To identify various subtypes of spinocerebellar ataxias (SCAs) among autosomal dominant cerebellar ataxia (ADCA) patients referred to our research center, SCA1, SCA2, SCA3/MJD (Machado-Joseph disease), SCA6, SCA7, SCA8 and SCA12 loci were assessed for expansion of trinucleotide repeats.
|
15080863 |
2004 |
|
Ataxia, Spinocerebellar
|
0.400 |
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 |
|
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
To identify the prevalence and determinants of restless legs syndrome (RLS) in spinocerebellar ataxia (SCA) we studied 58 patients with a molecular diagnosis of SCA1, SCA2 and SCA3.
|
11374096 |
2001 |
|
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this immunohistochemical study, we showed recruitment of ataxin-2, ataxin-3 and TATA box binding protein (TBP) into NIIs of the pontine neurons of spinocerebellar ataxia type (SCA) 1, SCA2, SCA3 and dentatorubral-pallidoluysian atrophy brains.
|
11563629 |
2001 |
|
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA).
|
10712199 |
2000 |
|
Ataxia, Spinocerebellar
|
0.400 |
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 |