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 |
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case of episodic ataxia type 2 with a novel pathogenic variant in CACNA1A is described.
|
31640633 |
2019 |
Episodic ataxia type 2 (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 |
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Detection of CACNA1A mutations facilitates the diagnosis of EA2.
|
29883219 |
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 |
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
Episodic ataxia type 2 (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.
|
28169007 |
2017 |
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A exonic deletions have also been reported in EA2 using quantitative approaches.
|
28566750 |
2017 |
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2.
|
28688851 |
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 |
Episodic ataxia type 2 (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 |
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 2 is caused by mutations in CACNA1A, which encodes the pore-forming subunit of the neuronal voltage-gated calcium channel Cav2.1.
|
26912519 |
2016 |
Episodic ataxia type 2 (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a four generation family showing different phenotypes ranging from EA2 to SCA6 and carrying the p.D302N CACNA1A gene mutation.
|
27871455 |
2016 |