|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
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 |
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 |
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 |
GeneticVariation
|
phenotype |
BEFREE |
R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.
|
22527033 |
2012 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.
|
10408534 |
1999 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia.
|
15210532 |
2004 |
|
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 |
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 |
GeneticVariation
|
phenotype |
BEFREE |
DNA sequencing and gene expression data demonstrate that Cacnl1a4 mutations are the primary cause of seizures and ataxia in tottering and leaner mutant mice, and suggest that tottering locus mutations and human diseases, episodic ataxia 2 and familial hemiplegic migraine, represent mutations in mouse and human versions of the same channel-encoding gene.
|
9060410 |
1997 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Dominantly transmitted cases had (CAG)(n) expansions at the Machado-Joseph disease gene (MJD1) (63%), at SCA2 (3%), the gene for dentatorubropallidoluysian atrophy (DRPLA) (2%), SCA6 (1%), or SCA7 (1%) loci, or (CTG)(n) expansions at the SCA8 (2%) gene, whereas (GAA)(n) expansions in the Freidreich ataxia gene (FRDA) were found in 64% of families with recessive ataxia.
|
11939898 |
2002 |
|
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 |
GeneticVariation
|
phenotype |
BEFREE |
Episodic ataxia type 2 is a prototypical episodic vertigo and ataxia syndrome that is caused by mutations in the calcium channel gene CACNA1A.
|
11796946 |
2002 |
|
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 |
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 |
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 |
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 |
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 |
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 |
In over 50% of cases the causative gene is CACNA1A (FHM1), which in some cases produces a phenotype with cerebellar signs, including ataxia and nystagmus.
|
15459825 |
2004 |
|
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 |
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 |
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 |
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 |
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
|
28007337 |
2017 |