Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
Although relatively rare in SCA6, the presence of dystonia was associated with slower progression of ataxia.
|
29089256 |
2017 |
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
|
28007337 |
2017 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
Mice expressing AAV9-mediated CACNA1A IRES-driven α1ACTSCA6 exhibited early-onset ataxia, motor deficits, and Purkinje cell degeneration.
|
27412786 |
2016 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
CACNA1A gene disorders present a variable familial phenotype of ataxia, migraine with aura, and/or hemiplegic migraine.
|
24898624 |
2014 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Autosomal dominant mutations in the CACNA1A gene, which encodes voltage-gated P/Q-type calcium channel subunit α(1) (the principal pore-forming subunit of the P/Q channel) are associated with episodic and progressive forms of cerebellar ataxia, familial hemiplegic migraine, vertigo and epilepsy.
|
22249839 |
2012 |
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we explored the effects of G protein-dependent modulation on mutations W1684R and V1696I which cause FHM-1 with and without cerebellar ataxia, respectively.
|
22549042 |
2012 |
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Besides the classical phenotype, mutations on CACNA1A gene are associated with a broader spectrum of clinical features including cerebellar ataxia, making FHM1 a complex channelopathy.
|
22527033 |
2012 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
CACNA1A mutations should be considered in the diagnostic workup of childhood stroke, especially if associated with ataxia and migraine.
|
21183743 |
2011 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Genetically confirmed ADCA patients included those with Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3; 63.3%), SCA6 (20.0%), ADCA linked to chromosome 16q22.1 (10.0%), dentatorubral pallidoluysian atrophy (4.4%), SCA1 (1.1%) and SCA2 (1.1%).
|
19169038 |
2009 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT.
|
19520699 |
2009 |
Cerebellar Ataxia
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset.
|
18949263 |
2008 |
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
LHGDN |
Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation.
|
18437043 |
2008 |