Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation disease BEFREE CACNA1A mutations underlie three allelic disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). 30063100 2019
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation disease BEFREE Moreover, whereas healthy subjects (n = 31) were found to be able to discriminate subtle differences in the kinematics of observed limb movements of others, patients suffering from spinocerebellar ataxia type 6 (SCA6; n = 21) were severely impaired in performing such tasks. 31747689 2019
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 GeneticVariation disease BEFREE A case of episodic ataxia type 2 with a novel pathogenic variant in CACNA1A is described. 31640633 2019
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 GeneticVariation disease BEFREE CACNA1A mutations underlie three allelic disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). 30063100 2019
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 GeneticVariation disease BEFREE Detection of CACNA1A mutations facilitates the diagnosis of EA2. 29883219 2019
Spinocerebellar Ataxia Type 6 (disorder)
1.000 AlteredExpression disease BEFREE Because silencing of the entire CACNA1A gene would result in the loss of the essential Cav2.1 channel, the IRES controlling α1ACT expression is an excellent target for selective silencing of α1ACT as a therapeutic intervention for SCA6. 29374372 2018
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker disease BEFREE Here we show that a perceptual disturbance of verticality is indeed present in people with a genetically determined and pure form of cerebellar degeneration (spinocerebellar ataxia type 6; SCA 6), but is only revealed under dynamic visual conditions. 30393031 2018
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker disease BEFREE Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Huntington disease-like 2 (HDL2) and SCA8, can be neuropathologically identified using 1C2 polyglutamine antibodies. 28987184 2017
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation disease BEFREE Similar differences were found among a single gene group, comparing 23 patients with CACNA1A expansions (spinocerebellar ataxia 6) to 22 patients with CACNA1A point mutations, which had lower average age at onset (25.2 versus 47.3 years) with longer disease duration (18.7 versus 10.9), but lower severity indexes (0.39 versus 0.44), indicating slower progression of the disease. 28444220 2017
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation disease BEFREE Spinocerebellar ataxia type 6 (SCA6) is one such midlife-onset disorder in which the mutated gene, CACNA1A, is implicated in cerebellar development. 27531396 2017
Spinocerebellar Ataxia Type 6 (disorder)
1.000 AlteredExpression disease BEFREE Expression levels of CACNA1A encoding α1A subunit were similar between SCA6 and control neurons, and no differences were found in the subcellular distribution of Ca<sub>V</sub>2.1 channel protein. 28946818 2017
Spinocerebellar Ataxia Type 6 (disorder)
1.000 GeneticVariation disease UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796 2017
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker disease BEFREE The aim of this study is to evaluate the correlation between resting state functional MRI (RS-fMRI) activity and motor and cognitive impairment in spinocerebellar ataxia type 6 (SCA6). 28295805 2017
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 CausalMutation disease CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 CausalMutation disease CLINVAR Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report. 28169007 2017
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 GeneticVariation disease BEFREE CACNA1A exonic deletions have also been reported in EA2 using quantitative approaches. 28566750 2017
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 Biomarker disease MGD Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2. 28688851 2017
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker disease GENOMICS_ENGLAND Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579 2016
Spinocerebellar Ataxia Type 6 (disorder)
1.000 Biomarker disease MGD Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration. 26730403 2016
Spinocerebellar Ataxia Type 6 (disorder)
1.000 AlteredExpression disease BEFREE We developed an early-onset SCA6 mouse model using an adeno-associated virus (AAV)-based gene delivery system to ectopically express CACNA1A IRES-driven α1ACTSCA6 to test the potential of CACNA1A IRES-targeting therapies. 27412786 2016
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 Biomarker disease GENOMICS_ENGLAND Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579 2016
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 GeneticVariation disease BEFREE Episodic ataxia type 2 is caused by mutations in CACNA1A, which encodes the pore-forming subunit of the neuronal voltage-gated calcium channel Cav2.1. 26912519 2016
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
1.000 GeneticVariation disease BEFREE We describe a four generation family showing different phenotypes ranging from EA2 to SCA6 and carrying the p.D302N CACNA1A gene mutation. 27871455 2016