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 |
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 |
BEFREE |
Familial hemiplegic migraine is caused by CACNA1A missense mutations in 50% of families, including all families with cerebellar ataxia.
|
11061267 |
2000 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Otolith function in cerebellar ataxia due to mutations in the calcium channel gene CACNA1A.
|
11701595 |
2001 |
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 |
CLINVAR |
|
|
|
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
This late-onset paroxysmal cerebellar ataxia with neuropathological lesions restricted to Purkinje cells and with negative results both for truncating mutations and CAG expansion in the CACNA1A gene represents a new entity.
|
11355155 |
2001 |
Cerebellar Ataxia
|
0.400 |
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 |
Cerebellar Ataxia
|
0.400 |
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 |
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 |
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 |
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 |
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 |
Cerebellar Ataxia
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.
|
10408534 |
1999 |
Cerebellar Ataxia
|
0.400 |
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 |
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 |
Biomarker
|
phenotype |
BEFREE |
We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms.
|
14534930 |
2003 |
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 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
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 |
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 |
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 |