Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxias 6 and 7 (SCA6 and SCA7) are neurodegenerative disorders caused by expansion of CAG repeats encoding polyglutamine (polyQ) tracts in CACNA1A, the alpha1A subunit of the P/Q-type calcium channel, and ataxin-7 (ATXN7), a component of a chromatin-remodeling complex, respectively.
|
21078624 |
2011 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6).
|
25735478 |
2015 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.
|
15026160 |
2004 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
|
24486772 |
2014 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
As sleep disturbances have been reported in spinocerebellar ataxias (SCAs), including types SCA1, SCA2, SCA3, SCA6 and SCA13, identification and management of these disturbances can help minimise their impact on SCA patients' overall body functions and quality of life.
|
29624773 |
2018 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
LHGDN |
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
|
16595610 |
2006 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
CTD_human |
Efficacy and tolerability of acetazolamide in migraine prophylaxis: a randomised placebo-controlled trial.
|
11985388 |
2002 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
LHGDN |
Impaired eye movements in presymptomatic spinocerebellar ataxia type 6.
|
18413478 |
2008 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
In Nagano, 16q22-linked ADCA appears to be much more prevalent than either SCA6 or dentatorubral-pallidoluysian atrophy (DRPLA), and may explain the high frequency of spinocerebellar ataxia.
|
16614795 |
2006 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the calcium channel voltage dependent P/Q-type alpha-1A subunit (CACNA1A) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FHM1) and progressive spinocerebellar ataxia (SCA6).
|
20682717 |
2010 |
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 |
Biomarker
|
disease |
BEFREE |
Patients with progressive cerebellar dysfunction of autosomal dominant transmission underwent a clinical examination protocol and genetic testing for spinocerebellar ataxia (SCA)1 to Machado-Joseph disease (MJD)/SCA3, SCA6, SCA7, SCA10, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy (DRPLA).
|
19659750 |
2010 |
Ataxia, Spinocerebellar
|
0.400 |
AlteredExpression
|
disease |
LHGDN |
Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6.
|
12676347 |
2003 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recent observations suggest that the human episodic ataxia 2 (EA2) and spinocerebellar ataxia types 6 (SCA6), 12 (SCA12), and 14 (SCA14) might be associated with impaired phosphorylation levels of cerebellum calcium channels and receptors.
|
19488825 |
2009 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
LHGDN |
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.
|
12545428 |
2003 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degeneration caused by the expansion of the polymorphic CAG repeat in the human alpha1A voltage-dependent calcium channel subunit gene (CACNL1A4 gene).
|
9259274 |
1997 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The Friedreich's ataxia mutation was found in five patients (4%), the spinocerebellar ataxia (SCA) 2 mutation in one (1%), the SCA3 mutation in two (2%) and the SCA6 mutation in seven (6%).
|
11960886 |
2002 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
The most common spinocerebellar ataxias (SCA)--SCA1, SCA2, SCA3, and SCA6--are caused by (CAG)n repeat expansion.
|
24780882 |
2014 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
CTD_human |
The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit.
|
16899342 |
2007 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
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 |
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 |