|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A mutations underlie three allelic disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6).
|
30063100 |
2019 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Moreover, whereas healthy subjects (n = 31) were found to be able to discriminate subtle differences in the kinematics of observed limb movements of others, patients suffering from spinocerebellar ataxia type 6 (SCA6; n = 21) were severely impaired in performing such tasks.
|
31747689 |
2019 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Because silencing of the entire CACNA1A gene would result in the loss of the essential Cav2.1 channel, the IRES controlling α1ACT expression is an excellent target for selective silencing of α1ACT as a therapeutic intervention for SCA6.
|
29374372 |
2018 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we show that a perceptual disturbance of verticality is indeed present in people with a genetically determined and pure form of cerebellar degeneration (spinocerebellar ataxia type 6; SCA 6), but is only revealed under dynamic visual conditions.
|
30393031 |
2018 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Huntington disease-like 2 (HDL2) and SCA8, can be neuropathologically identified using 1C2 polyglutamine antibodies.
|
28987184 |
2017 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Similar differences were found among a single gene group, comparing 23 patients with CACNA1A expansions (spinocerebellar ataxia 6) to 22 patients with CACNA1A point mutations, which had lower average age at onset (25.2 versus 47.3 years) with longer disease duration (18.7 versus 10.9), but lower severity indexes (0.39 versus 0.44), indicating slower progression of the disease.
|
28444220 |
2017 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 6 (SCA6) is one such midlife-onset disorder in which the mutated gene, CACNA1A, is implicated in cerebellar development.
|
27531396 |
2017 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Expression levels of CACNA1A encoding α1A subunit were similar between SCA6 and control neurons, and no differences were found in the subcellular distribution of Ca<sub>V</sub>2.1 channel protein.
|
28946818 |
2017 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
|
29053796 |
2017 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
The aim of this study is to evaluate the correlation between resting state functional MRI (RS-fMRI) activity and motor and cognitive impairment in spinocerebellar ataxia type 6 (SCA6).
|
28295805 |
2017 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
|
27250579 |
2016 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration.
|
26730403 |
2016 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We developed an early-onset SCA6 mouse model using an adeno-associated virus (AAV)-based gene delivery system to ectopically express CACNA1A IRES-driven α1ACTSCA6 to test the potential of CACNA1A IRES-targeting therapies.
|
27412786 |
2016 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expansion of the CAG/polyQ region of CACNA1A occurs within α1ACT and leads to ataxia.There are few animal models of SCA6.
|
25954029 |
2015 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
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 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Here, we studied the cerebellar gene expression patterns of young Sca6-MPI(118Q/118Q) knockin (KI) mice, which expressed mutant Cav2.1 from an endogenous locus and recapitulated many phenotypic features of human SCA6.
|
26034136 |
2015 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
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 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are distinct neurological disorders associated with mutations in the CACNA1A gene.
|
25266619 |
2014 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are allelic disorders of the gene CACNA1A encoding the P/Q subunit of a voltage gated calcium channel.
|
24486772 |
2014 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CACNA1A gene, encoding the α1 subunit of the voltage-gated calcium channel Ca(V)2.1 (P/Q-type), have been associated with three neurological phenotypes: familial and sporadic hemiplegic migraine type 1 (FHM1, SHM1), episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 (SCA6).
|
24836863 |
2014 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One family with spinocerebellar ataxia type 6 and 2 families with other CACNA1A gene mutations were identified.
|
24898624 |
2014 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Suppression of CACNA1A IRES function in SCA6 may be a potential therapeutic strategy.
|
23827678 |
2013 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6.
|
23054835 |
2012 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 6 (SCA6) is an inherited neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the Ca(V)2.1 voltage-gated calcium channel subunit (CACNA1A).
|
21550405 |
2011 |