|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
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 |
We investigated the (CAG)n repeat length of the CACNL1A4 gene in 733 patients with sporadic ataxia and in 46 German families with dominantly inherited SCA which do not harbor the SCA1, SCA2, or MJD1/SCA3 mutation, respectively.
|
9259275 |
1997 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
With the recent report of mutations in the calcium channel gene CACNA1A in two families with episodic ataxia type 2, we investigated a patient with nonfamilial episodic vertigo and ataxia responsive to acetazolamide for similar mutations.
|
9600739 |
1998 |
|
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 |
To obtain further insight into the contribution of SCA6 mutations to the phenotypic variability in Dutch patients with ataxia.
|
11708993 |
2001 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/spasticity disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2; 9) the benign hereditary chorea locus on 14q; 10) the SCA type 5 locus on chromosome 11; and 11) the chromosome 19 region that contains several ion channels and the CACNA1A gene, a brain-specific P/Q-type calcium channel gene associated with ataxia and hemiplegic migraine.
|
11310626 |
2001 |
|
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 |
Mutations at the mouse orthologue of the CACNA1A gene cause a group of recessive neurological disorders, including the tottering, leaner, and rocker phenotypes with ataxia and absence epilepsy, and the rolling Nagoya phenotype with ataxia without seizures.
|
11890456 |
2002 |
|
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 |
Biomarker
|
phenotype |
LHGDN |
We identified a novel CACNA1A mutation (nucleotides 1253+1 G-->A) that was present in all subjects with febrile spells or ataxia.
|
14681882 |
2003 |
|
Ataxia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We identified a novel CACNA1A mutation (nucleotides 1253+1 G-->A) that was present in all subjects with febrile spells or ataxia.
|
14681882 |
2003 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
LHGDN |
We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms.
|
14534930 |
2003 |
|
Ataxia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms.
|
14534930 |
2003 |
|
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 |
A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia.
|
15210532 |
2004 |
|
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 |
|
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 |
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 |