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 |
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 |
To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2, SCA3 and SCA6.
|
29959555 |
2018 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
LHGDN |
Impaired eye movements in presymptomatic spinocerebellar ataxia type 6.
|
18413478 |
2008 |
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 |
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 |
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 |
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 |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
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 |
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 |
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 |
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 |
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 |
Efficacy and tolerability of acetazolamide in migraine prophylaxis: a randomised placebo-controlled trial.
|
11985388 |
2002 |
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 |
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 |
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 |
Two hundred twenty-eight patients with SCA1, SCA2, SCA3, or SCA6, recruited from the EuroSCA natural history study, completed a fall questionnaire that assessed the frequency, consequences, and several details of falls in the previous 12 months.
|
20157791 |
2010 |
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 |
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 |
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 |
LHGDN |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Voltage-dependent calcium channel mutations have been associated with spinocerebellar ataxia in humans (SCA6) and with ataxia, progressive cerebellar degeneration, and epilepsy in mice (tottering, lethargic, and stargazer).
|
10643919 |
2000 |