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Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease.
Lee SU, Kim JS, Yoo D, Kim A, Kim HJ, Choi JY, Park JY, Jeong SH, Kim JM, Park KW. Lee SU, et al. Cerebellum. 2023 Feb;22(1):1-13. doi: 10.1007/s12311-021-01356-2. Epub 2022 Jan 7. Cerebellum. 2023. PMID: 34993890
Differentiation of spinocerebellar ataxia type 17 (SCA17) from Huntington's disease (HD) is often challenging since they share the clinical features of chorea, parkinsonism, and dystonia. ...In SCA17, abnormal ocular motor findings included impaired sm …
Differentiation of spinocerebellar ataxia type 17 (SCA17) from Huntington's disease (HD) is often challenging si …
Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism.
Kim JY, Kim SY, Kim JM, Kim YK, Yoon KY, Kim JY, Lee BC, Kim JS, Paek SH, Park SS, Kim SE, Jeon BS. Kim JY, et al. Neurology. 2009 Apr 21;72(16):1385-9. doi: 10.1212/WNL.0b013e3181a18876. Neurology. 2009. PMID: 19380697
OBJECTIVE: To investigate the role of spinocerebellar ataxia type 17 (SCA17) in the development of parkinsonism. ...
OBJECTIVE: To investigate the role of spinocerebellar ataxia type 17 (SCA17) in the development of parkinsonism. …
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.
Mariotti C, Alpini D, Fancellu R, Soliveri P, Grisoli M, Ravaglia S, Lovati C, Fetoni V, Giaccone G, Castucci A, Taroni F, Gellera C, Di Donato S. Mariotti C, et al. J Neurol. 2007 Nov;254(11):1538-46. doi: 10.1007/s00415-007-0579-7. Epub 2007 Oct 15. J Neurol. 2007. PMID: 17934876
Cerebellar signs and symptoms were present in all cases; 80% of the patients had mild to severe cognitive deficits; 66% of patients showed choreic movements; pyramidal signs, bradykinesia and dystonia were observed in approx 50% of the cases. MRI demonstrated cortical and …
Cerebellar signs and symptoms were present in all cases; 80% of the patients had mild to severe cognitive deficits; 66% of patients showed c …
Spinocerebellar ataxia type 17 in the Yugoslav population.
Alendar A, Euljković B, Savić D, Djarmati A, Keckarević M, Ristić A, Dragasević N, Kosić V, Romac S. Alendar A, et al. Acta Neurol Scand. 2004 Mar;109(3):185-7. doi: 10.1034/j.1600-0404.2003.00196.x. Acta Neurol Scand. 2004. PMID: 14763955
OBJECTIVES: (1) Analysis of Spinocerebellar ataxia type 17 (SCA17) locus in a group of ataxic patients excluded on other known SCAs; (2) assessment of frequency distributions of SCA17 alleles in the Yugoslav population. ...In the group of patients 12 d …
OBJECTIVES: (1) Analysis of Spinocerebellar ataxia type 17 (SCA17) locus in a group of ataxic patients excluded …
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. Ob …
BACKGROUND: Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expande …
Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene.
Nolte D, Sobanski E, Wissen A, Regula JU, Lichy C, Müller U. Nolte D, et al. J Neurol Neurosurg Psychiatry. 2010 Dec;81(12):1396-9. doi: 10.1136/jnnp.2009.180711. Epub 2010 Jun 28. J Neurol Neurosurg Psychiatry. 2010. PMID: 20587494
BACKGROUND: Spinocerebellar ataxia type 17 (SCA17) is caused by abnormal expansions of CAG/CAA trinucleotides within the TATA-box binding protein gene (TBP). ...All had dysdiadochokinesia and dysarthria. Mild gait ataxia was observed in three of …
BACKGROUND: Spinocerebellar ataxia type 17 (SCA17) is caused by abnormal expansions of CAG/CAA trinucleotides wi …
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. ...To manage our issues, we have generated TBP/79Q-expressing SH-SY5Y cells and SCA 17 transgenic …
Spinocerebellar ataxia type 17 (SCA 17) is a polyglutamine disease caused by the expansion of CAG/CAA repeats in …
A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers.
Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, Yu-Taeger L, Pichler B, Bauer P, Riess O, Nguyen HP. Kelp A, et al. J Neurosci. 2013 May 22;33(21):9068-81. doi: 10.1523/JNEUROSCI.5622-12.2013. J Neurosci. 2013. PMID: 23699518 Free PMC article.
To further investigate this devastating disease, we sought to create a first transgenic rat model for SCA17 that carries a full human cDNA fragment of the TBP gene with 64 CAA/CAG repeats (TBPQ64). In line with previous observations in mouse models for SCA17, TBPQ64 rats s …
To further investigate this devastating disease, we sought to create a first transgenic rat model for SCA17 that carries a full human cDNA f …
Comparison of cerebellar ataxias: A three-year prospective longitudinal assessment.
Lee YC, Liao YC, Wang PS, Lee IH, Lin KP, Soong BW. Lee YC, et al. Mov Disord. 2011 Sep;26(11):2081-7. doi: 10.1002/mds.23809. Epub 2011 May 28. Mov Disord. 2011. PMID: 21626567
Severity of ataxia was assessed in 238 patients with spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, spinocerebellar ataxia type 6, spinocerebellar ataxia type 17, multiple system atrophy-cerebellar variant, or Gerstman-Straussler-Scheink …
Severity of ataxia was assessed in 238 patients with spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, spinocerebellar ataxia ty …
Trinucleotide repeat expansion of TATA-binding protein gene associated with Parkinson's disease: A Thai multicenter study.
Choubtum L, Witoonpanich P, Kulkantrakorn K, Hanchaiphiboolkul S, Pongpakdee S, Tiamkao S, Pulkes T. Choubtum L, et al. Parkinsonism Relat Disord. 2016 Jul;28:146-9. doi: 10.1016/j.parkreldis.2016.05.008. Epub 2016 May 4. Parkinsonism Relat Disord. 2016. PMID: 27172828
INTRODUCTION: Spinocerebellar ataxia type 17 (SCA17) is an inherited cerebellar degeneration associated with trinucleotide repeat expansions in the TATA-binding protein gene (TBP). Low-range expansions of TBP have recently been described in association …
INTRODUCTION: Spinocerebellar ataxia type 17 (SCA17) is an inherited cerebellar degeneration associated with tri …
13 results