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Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.
Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP. Rossi M, et al. Mov Disord. 2023 Mar;38(3):368-377. doi: 10.1002/mds.29278. Epub 2022 Nov 14. Mov Disord. 2023. PMID: 36374860 Review.
Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. ...
Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinica …
Differential diagnosis of Huntington's disease: what the clinician should know.
Cardoso F. Cardoso F. Neurodegener Dis Manag. 2014;4(1):67-72. doi: 10.2217/nmt.13.78. Neurodegener Dis Manag. 2014. PMID: 24640980
Autosomal-dominant diseases that can mimic HD are HD-like 2, C9orf72 mutations, spinocerebellar ataxia type 2, spinocerebellar ataxia type 17 (HD-like 4), benign hereditary chorea, neuroferritinopathy (neurodegeneration with brain …
Autosomal-dominant diseases that can mimic HD are HD-like 2, C9orf72 mutations, spinocerebellar ataxia type 2, spino …
Treatment with a Ginkgo biloba extract, EGb 761, inhibits excitotoxicity in an animal model of spinocerebellar ataxia type 17.
Huang DS, Lin HY, Lee-Chen GJ, Hsieh-Li HM, Wu CH, Lin JY. Huang DS, et al. Drug Des Devel Ther. 2016 Feb 18;10:723-31. doi: 10.2147/DDDT.S98156. eCollection 2016. Drug Des Devel Ther. 2016. PMID: 26937174 Free PMC article.
Spinocerebellar ataxia type 17 (SCA 17) is a polyglutamine disease caused by the expansion of CAG/CAA repeats in the TATA box-binding protein (TBP) gene. ...Therefore, we suggest that EGb 761 may be a potential therapeutic agent for treat …
Spinocerebellar ataxia type 17 (SCA 17) is a polyglutamine disease caused by the expansion of CAG/CAA rep …
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
Zühlke C, Dalski A, Schwinger E, Finckh U. Zühlke C, et al. BMC Med Genet. 2005 Jul 1;6:27. doi: 10.1186/1471-2350-6-27. BMC Med Genet. 2005. PMID: 15989694 Free PMC article.
BACKGROUND: Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic polyglutamine-encoding trinucleotide repeat in the gene for TATA-box binding protein (TBP), a main transcription factor. ...Th …
BACKGROUND: Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expande …