|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Genetically confirmed CACNA1A cases were retrieved from the database of the ataxia outpatient clinic of the Department of Neurology at Innsbruck Medical University.
|
30063100 |
2019 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic.
|
28856914 |
2018 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Deletions of CACNA1A, encoding the α1 subunit of Ca<sub>V</sub> 2.1 channels, cause epilepsy with ataxia in humans.
|
30048010 |
2018 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Although relatively rare in SCA6, the presence of dystonia was associated with slower progression of ataxia.
|
29089256 |
2017 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
|
28007337 |
2017 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Rare cases of markedly severe early onset developmental delay and congenital ataxia can be due to de novo CACNA1A missense alleles, with variants affecting the S4 transmembrane segments of the channel, some of which are reported to be loss-of-function.
|
28742085 |
2017 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with CACNA1A variants often show acute attacks with ataxia or hemiplegia till coma, sometimes related to unilateral brain oedema.
|
27651281 |
2017 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Mice expressing AAV9-mediated CACNA1A IRES-driven α1ACTSCA6 exhibited early-onset ataxia, motor deficits, and Purkinje cell degeneration.
|
27412786 |
2016 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
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
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Given the dependence of γ-aminobutyric acid type A (GABAA) receptor subunit functioning on localized calcium currents, and the functional link between GABAergic inhibition and ataxia, we hypothesized that cerebellar GABAA receptor expression is differentially affected in Cacna1a mutants and contributes to the ataxic phenotype.
|
26208839 |
2015 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
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 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
CACNA1A gene disorders present a variable familial phenotype of ataxia, migraine with aura, and/or hemiplegic migraine.
|
24898624 |
2014 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Familial hemiplegic migraine type 1 (FHM-1) is an autosomal dominant form of migraine with aura characterized by recurrent migraine, hemiparesis and ataxia.
|
23430985 |
2013 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.
|
22527033 |
2012 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
We identified 118 protein interactions for CACNA1A and ATXN7 linking them to other ataxia-causing proteins and the ataxia network.
|
21078624 |
2011 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
CACNA1A mutations should be considered in the diagnostic workup of childhood stroke, especially if associated with ataxia and migraine.
|
21183743 |
2011 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
|
18976783 |
2009 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In the ataxia group, we found (CAG)n above the range of the asymptomatic blood donors in SCA3 (21.74%) followed by SCA2 (5.22%), SCA7 (2.61%), SCA6 (0.87%), and no cases of SCA1.
|
20069235 |
2009 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT.
|
19520699 |
2009 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In addition, the authors identified the first pathogenic duplication in CACNA1A in an index case with isolated episodic diplopia without ataxia and in a first degree relative with episodic ataxia.
|
19586927 |
2009 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.
|
19182766 |
2009 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Stepwise developmental regression associated with novel CACNA1A mutation.
|
18940563 |
2008 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Episodic ataxia type 2 (EA2) is characterized by prolonged episodes of ataxia with interictal nystagmus and is caused by mutations in CACNA1A.
|
18541804 |
2008 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.
|
17376154 |
2007 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
On the basis of the neuropathological identity of SCA 6 with CCA, and of the effect of gabapentin and pregabalin on recombinant VDCCs the authors put forward the hypothesis that these drugs might prove beneficial in SCA 6, as the ataxia would be expected to improve.
|
17489948 |
2007 |