ATXN8OS, ATXN8 opposite strand lncRNA, 6315

N. diseases: 91; N. variants: 0
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype BEFREE We analyzed the ATXN8OS gene in 150 Japanese patients with ataxia and 76 patients with Parkinson's disease or related disorders. 29916049 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype BEFREE Spinocerebellar ataxia 8 (SCA8), a triplet repeat expansion disorder, is genetically distinct from the other inherited ataxias, but its unusually variable phenotype can make its diagnosis difficult. 19559641 2009
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype BEFREE The SCA 8 expansion is associated with ataxia in Scotland. 18095954 2008
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype BEFREE We report two patients who developed other causes of ataxia in the setting of SCA-3 and SCA-8 mutations, respectively. 16621237 2007
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype BEFREE Targeted deletion of the KLHL1 gene in Purkinje neurons results in dendritic deficits in these neurons, abnormal gait, and progressive loss of motor coordination in mice [He Y, Zu T, Benzow KA, Orr HT, Clark HB, Koob MD (2006) Targeted deletion of a single SCA8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits.J Neurosci 26:9975-9982]. 17289272 2007
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype BEFREE Early onset of ataxia in a child with a pathogenic SCA8 allele. 16087061 2005
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype LHGDN Expansion of CTA/CTG repeats in the SCA8 locus was found in 2 of 100 controls and in 5 probands among 150 pedigrees affected with unidentified ataxias. 14960773 2004
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype BEFREE To establish whether the DNA expansion linked to spinocerebellar ataxia type 8 (SCA 8) is associated with ataxia in Scotland; to clarify the range of associated clinical phenotypes; and to compare the findings with previous reports. 14966165 2004
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype BEFREE Do CTG expansions at the SCA8 locus cause ataxia? 12838526 2003
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype BEFREE Isolated patients also had TNR expansions at the MJD1 (6%), SCA8 (6%), or FRDA (8%) genes; in addition, an expanded allele at the TATA-binding protein gene (TBP), with 43 CAGs, was present in a patient with ataxia and mental deterioration. 11939898 2002
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype BEFREE These results are in agreement with the hypothesis of the CTG expansion in the SCA8 locus being responsible for the SCA8 ataxia showing reduced penetrance. 12431257 2002
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype BEFREE SCA8 repeat expansions in ataxia: a controversial association. 11591855 2001
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype BEFREE Preliminary evidence suggests that large repeat alleles at SCA8 that are non-penetrant for ataxia may be a susceptibility factor for major psychosis. 10813808 2000
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype BEFREE We have previously assigned the IOSCA locus (HGMW-approved symbol SCA8) to chromosome 10q, where no previously identified ataxia loci are located. 9027505 1997