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Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.
Zhou Y, Yuan Y, Liu Z, Zeng S, Chen Z, Shen L, Jiang H, Xia K, Tang B, Wang J. Zhou Y, et al. J Neurol. 2019 Dec;266(12):2979-2986. doi: 10.1007/s00415-019-09519-2. Epub 2019 Aug 30. J Neurol. 2019. PMID: 31471687
BACKGROUND: Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS gene. ...
BACKGROUND: Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused b …
Mechanisms of repeat-associated non-AUG translation in neurological microsatellite expansion disorders.
Castelli LM, Huang WP, Lin YH, Chang KY, Hautbergue GM. Castelli LM, et al. Biochem Soc Trans. 2021 Apr 30;49(2):775-792. doi: 10.1042/BST20200690. Biochem Soc Trans. 2021. PMID: 33729487 Free PMC article. Review.
Repeat-associated non-AUG (RAN) translation was discovered in 2011 in spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1). ...
Repeat-associated non-AUG (RAN) translation was discovered in 2011 in spinocerebellar ataxia type 8 (SCA8) and m …
Spinocerebellar ataxia type 8 in Scotland: frequency, neurological, neuropsychological and neuropsychiatric findings.
Torrens L, Burns E, Stone J, Graham C, Wright H, Summers D, Sellar R, Porteous M, Warner J, Zeman A. Torrens L, et al. Acta Neurol Scand. 2008 Jan;117(1):41-8. doi: 10.1111/j.1600-0404.2007.00904.x. Acta Neurol Scand. 2008. PMID: 18095954
OBJECTIVES: The objectives of this study were to: (i) establish whether the spinocerebellar ataxia type 8 (SCA 8) expansion is associated with ataxia in Scotland; (ii) test the hypothesis that SCA 8 is associated with neuropsychological impairment; and …
OBJECTIVES: The objectives of this study were to: (i) establish whether the spinocerebellar ataxia type 8 (SCA 8 …
Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy.
Cellini E, Nacmias B, Forleo P, Piacentini S, Guarnieri BM, Serio A, Calabrò A, Renzi D, Sorbi S. Cellini E, et al. Arch Neurol. 2001 Nov;58(11):1856-9. doi: 10.1001/archneur.58.11.1856. Arch Neurol. 2001. PMID: 11708995
BACKGROUND: The spinocerebellar ataxias (SCAs) are clinically heterogeneous disorders caused by triplet repeat expansions in the sequence of specific disease genes. Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by …
BACKGROUND: The spinocerebellar ataxias (SCAs) are clinically heterogeneous disorders caused by triplet repeat expansions in the sequence of …
Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia.
Topisirovic I, Dragasevic N, Savic D, Ristic A, Keckarevic M, Keckarevic D, Culjkovic B, Petrovic I, Romac S, Kostic VS. Topisirovic I, et al. Clin Genet. 2002 Oct;62(4):321-4. doi: 10.1034/j.1399-0004.2002.620412.x. Clin Genet. 2002. PMID: 12372061
Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive ataxia causally associated with untranslated CTG repeat expansion on chromosome 13q21. ...
Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive ataxia causally associated with untranslated CTG re …
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.
Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP. Ikeda Y, et al. Am J Hum Genet. 2004 Jul;75(1):3-16. doi: 10.1086/422014. Epub 2004 May 19. Am J Hum Genet. 2004. PMID: 15152344 Free PMC article.
We reported elsewhere that an untranslated CTG expansion causes the dominantly inherited neurodegenerative disorder spinocerebellar ataxia type 8 (SCA8). SCA8 shows a complex inheritance pattern with extremes of incomplete penetrance, in which often on …
We reported elsewhere that an untranslated CTG expansion causes the dominantly inherited neurodegenerative disorder spinocerebellar …
Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.
Zeman A, Stone J, Porteous M, Burns E, Barron L, Warner J. Zeman A, et al. J Neurol Neurosurg Psychiatry. 2004 Mar;75(3):459-65. doi: 10.1136/jnnp.2003.018895. J Neurol Neurosurg Psychiatry. 2004. PMID: 14966165 Free PMC article. Review.
OBJECTIVES: 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. ...
OBJECTIVES: To establish whether the DNA expansion linked to spinocerebellar ataxia type 8 (SCA 8) is associated …
Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects.
Hu Y, Hashimoto Y, Ishii T, Rayle M, Soga K, Sato N, Okita M, Higashi M, Ozaki K, Mizusawa H, Ishikawa K, Yokota T. Hu Y, et al. J Neurol Sci. 2017 Nov 15;382:87-90. doi: 10.1016/j.jns.2017.08.3256. Epub 2017 Aug 31. J Neurol Sci. 2017. PMID: 29111027
Spinocerebellar ataxia type 8 (SCA8), an autosomal dominant neurodegenerative disorder showing slowly progressive cerebellar ataxia, is caused by a tri-nucleotide CTG repeat expansion (CTGexp) in the SCA8 gene. ...
Spinocerebellar ataxia type 8 (SCA8), an autosomal dominant neurodegenerative disorder showing slowly progressiv …
Long repeat tracts at SCA8 in major psychosis.
Vincent JB, Yuan QP, Schalling M, Adolfsson R, Azevedo MH, Macedo A, Bauer A, DallaTorre C, Medeiros HM, Pato MT, Pato CN, Bowen T, Guy CA, Owen MJ, O'Donovan MC, Paterson AD, Petronis A, Kennedy JL. Vincent JB, et al. Am J Med Genet. 2000 Dec 4;96(6):873-6. doi: 10.1002/1096-8628(20001204)96:6<873::aid-ajmg37>3.0.co;2-9. Am J Med Genet. 2000. PMID: 11121201
Expansion at a recently identified unstable trinucleotide repeat on chromosome 13q21 has been reported as the molecular cause for spinocerebellar ataxia type 8 (SCA8). The trinucleotide repeat, which consists of a [CTA]n repeat and adjacent [CTG]n repe …
Expansion at a recently identified unstable trinucleotide repeat on chromosome 13q21 has been reported as the molecular cause for spinoce …
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