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Published in: Neuroscience Bulletin 5/2018

01-10-2018 | Letter to the Editor

Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China

Authors: Minjin Wang, Shuo Guo, Wencong Yao, Jun Wang, Jianxia Tao, Yanbing Zhou, Binwu Ying

Published in: Neuroscience Bulletin | Issue 5/2018

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Dear Editor, …
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Literature
1.
go back to reference Muso Z, Sedlacek Z, Mazanec R, Klempir J, Roth J, Plevova P, et al. Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro–pallidoluysian atrophy in Czech ataxic patients. Cerebellum 2013, 12:155–161.CrossRef Muso Z, Sedlacek Z, Mazanec R, Klempir J, Roth J, Plevova P, et al. Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro–pallidoluysian atrophy in Czech ataxic patients. Cerebellum 2013, 12:155–161.CrossRef
2.
go back to reference Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, et al. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 2004, 75: 3–16.CrossRefPubMedPubMedCentral Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, et al. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 2004, 75: 3–16.CrossRefPubMedPubMedCentral
3.
go back to reference Mariotti C, Di Donato S. Cerebellar/spinocerebellar syndromes. Neurol Sci 2001, 22 Suppl 2: S88–S92.CrossRefPubMed Mariotti C, Di Donato S. Cerebellar/spinocerebellar syndromes. Neurol Sci 2001, 22 Suppl 2: S88–S92.CrossRefPubMed
4.
go back to reference Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999, 21: 379–384.CrossRefPubMed Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999, 21: 379–384.CrossRefPubMed
5.
go back to reference Silveira I, Alonso I, Guimaraes L, Mendonca P, Santos C, Maciel P, et al. High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet 2000, 66: 830–840.CrossRefPubMedPubMedCentral Silveira I, Alonso I, Guimaraes L, Mendonca P, Santos C, Maciel P, et al. High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet 2000, 66: 830–840.CrossRefPubMedPubMedCentral
6.
go back to reference Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet 2006, 38: 758–769.CrossRefPubMed Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet 2006, 38: 758–769.CrossRefPubMed
7.
go back to reference Moseley ML, Schut LJ, Bird TD, Koob MD, Day JW, Ranum LP. SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum Mol Genet 2000, 9: 2125–2130.CrossRefPubMed Moseley ML, Schut LJ, Bird TD, Koob MD, Day JW, Ranum LP. SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum Mol Genet 2000, 9: 2125–2130.CrossRefPubMed
8.
go back to reference Musova Z, Sedlacek Z,Mazanec R, Klempir J, Roth J, Plevova P, et al. Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro–pallidoluysian atrophy in Czech ataxic patients. Cerebellum 2013, 12: 155–161.CrossRefPubMed Musova Z, Sedlacek Z,Mazanec R, Klempir J, Roth J, Plevova P, et al. Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro–pallidoluysian atrophy in Czech ataxic patients. Cerebellum 2013, 12: 155–161.CrossRefPubMed
9.
go back to reference Munhoz RP, Teive HA, Raskin S, Werneck LC. CTA/CTG expansionsat the SCA 8 locus in multiple system atrophy. Clin Neurol Neurosurg 2009, 111: 208–210.CrossRefPubMed Munhoz RP, Teive HA, Raskin S, Werneck LC. CTA/CTG expansionsat the SCA 8 locus in multiple system atrophy. Clin Neurol Neurosurg 2009, 111: 208–210.CrossRefPubMed
10.
go back to reference Cintra VP, Lourenço CM, Rocha MM, Tomaselli PJ, Marques W. Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family. Acta Neurol Scand 2017, 136: 541–545.CrossRefPubMed Cintra VP, Lourenço CM, Rocha MM, Tomaselli PJ, Marques W. Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family. Acta Neurol Scand 2017, 136: 541–545.CrossRefPubMed
11.
go back to reference Juvonen V, Hietala M, Päivärinta M, Rantamäki M, Hakamies L, Kaakkola S, et al. Clinical and genetic findingsin Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann Neurol 2000, 48: 354–361.CrossRefPubMed Juvonen V, Hietala M, Päivärinta M, Rantamäki M, Hakamies L, Kaakkola S, et al. Clinical and genetic findingsin Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann Neurol 2000, 48: 354–361.CrossRefPubMed
Metadata
Title
Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China
Authors
Minjin Wang
Shuo Guo
Wencong Yao
Jun Wang
Jianxia Tao
Yanbing Zhou
Binwu Ying
Publication date
01-10-2018
Publisher
Springer Singapore
Published in
Neuroscience Bulletin / Issue 5/2018
Print ISSN: 1673-7067
Electronic ISSN: 1995-8218
DOI
https://doi.org/10.1007/s12264-018-0247-1

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