ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
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 		0.100 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 		0.100 Biomarker phenotype BEFREE Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. 12116207 2002
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 Biomarker phenotype BEFREE Patients with ataxia should be tested for SCA2 and SCA3. 11804332 2001
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 GeneticVariation phenotype BEFREE SCA-2 is an autosomal dominant inherited disorder characterized by ataxia, slow saccades, and hyporeflexia. 10953195 2000
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 GeneticVariation phenotype BEFREE We investigated the (CAG)n repeat length of the SCA2 gene in 842 patients with sporadic ataxia and in 96 German families with dominantly inherited SCA which do not harbor the SCA1 or MJD1/SCA3 mutation, respectively. 10735276 1997
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 GeneticVariation phenotype BEFREE The recent demonstration that spinocerebellar ataxia type 2 (SCA2) is caused by a CAG repeat expansion within the ataxin-2 gene has allowed us to determine the frequency of SCA2 compared with SCA1, SCA3/Machado-Joseph disease (MJD), and dentatorubropallidoluysian atrophy (DRPLA) in patients with sporadic and inherited ataxia. 9106530 1997
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 Biomarker phenotype BEFREE Genetic heterogeneity has been established, and disease loci for spinal cerebellar ataxia have been assigned to chromosomes 6 (SCA1), 12 (SCA2) and 14 (Machado Joseph disease (MJD)). 8162021 1994