Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 Biomarker phenotype BEFREE SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. 18949263 2008
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE Otolith function in cerebellar ataxia due to mutations in the calcium channel gene CACNA1A. 11701595 2001
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype CLINVAR
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. 10408534 1999
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 Biomarker phenotype BEFREE We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. 14534930 2003
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 CausalMutation phenotype CLINVAR
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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
CUI: C0007758
Disease: Cerebellar Ataxia
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