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 A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia. 15210532 2004
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia. 28007337 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 Biomarker phenotype BEFREE CACNA1A gene disorders present a variable familial phenotype of ataxia, migraine with aura, and/or hemiplegic migraine. 24898624 2014
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE Rare cases of markedly severe early onset developmental delay and congenital ataxia can be due to de novo CACNA1A missense alleles, with variants affecting the S4 transmembrane segments of the channel, some of which are reported to be loss-of-function. 28742085 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype LHGDN Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation. 18437043 2008
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 Biomarker phenotype BEFREE We identified 118 protein interactions for CACNA1A and ATXN7 linking them to other ataxia-causing proteins and the ataxia network. 21078624 2011
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE Mutations in this gene, recently shown to be the alpha1 subunit of a P/Q-type voltage-dependent calcium channel, CACNL1A4, are involved in approximately 50% of unselected FHM families and in all families where migraine attacks are associated with permanent cerebellar ataxia. 9403481 1997
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE To obtain further insight into the contribution of SCA6 mutations to the phenotypic variability in Dutch patients with ataxia. 11708993 2001
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype LHGDN CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. 15985579 2005
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT. 19520699 2009
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE Besides the classical phenotype, mutations on CACNA1A gene are associated with a broader spectrum of clinical features including cerebellar ataxia, making FHM1 a complex channelopathy. 22527033 2012
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 Biomarker phenotype MGD
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE CACNA1A mutations should be considered in the diagnostic workup of childhood stroke, especially if associated with ataxia and migraine. 21183743 2011
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 Biomarker phenotype BEFREE Mice expressing AAV9-mediated CACNA1A IRES-driven α1ACTSCA6 exhibited early-onset ataxia, motor deficits, and Purkinje cell degeneration. 27412786 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE Patients with CACNA1A variants often show acute attacks with ataxia or hemiplegia till coma, sometimes related to unilateral brain oedema. 27651281 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 GeneticVariation phenotype BEFREE Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. 10051016 1999
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 Biomarker phenotype BEFREE SCA-6 has recently been identified genetically and characterized as pure cerebellar ataxia that affects the cerebellar cortex selectively. 10690977 2000
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.400 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