Investigation of SCA10 in the Cypriot population: Further exclusion of SCA dynamic repeat mutations

Journal of the Neurological Sciences

Volumn 323, Issue 1-2, 2012, Pages 154-157

  Votsi, Christina ^a   Zamba Papanicolaou, Eleni ^a   Georghiou, Anthi ^a   Kyriakides, Theodoros ^a   Papacostas, Savvas ^a   Kleopa, Kleopas A ^a   Pantzaris, Marios ^a   Christodoulou, Kyproula ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

ADCA; ARCA; Pentanucleotide repeat expansion; SCA; SCA10; Sporadic ataxia; Triplet repeat expansion SCAs

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CEREBELLUM; COHORT ANALYSIS; CONTROLLED STUDY; DYNAMICS; ETHNICITY; FEMALE; GENETICS; GEOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION; POPULATION RESEARCH; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHROMOSOMES, HUMAN, PAIR 22; CYPRUS; DNA REPEAT EXPANSION; ETHNIC GROUPS; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; INTRONS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; NERVE TISSUE PROTEINS; SPINOCEREBELLAR ATAXIAS; SYMPTOM ASSESSMENT; YOUNG ADULT;

EID: 84867889347     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.09.006     Document Type: Article

References (22)

1. A. Durr Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond Lancet Neurol 9 2010 885 894
2. H.A. Teive, R.P. Munhoz, W.O. Arruda, S. Raskin, L.C. Werneck, and T. Ashizawa Spinocerebellar ataxia type 10 - a review Parkinsonism Relat Disord 17 2011 655 661
3. B.P. van de Warrenburg, R.J. Sinke, C.C. Verschuuren-Bemelmans, H. Scheffer, E.R. Brunt, and P.F. Ippel Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis Neurology 58 2002 702 708
4. A.K. Erichsen, J. Koht, A. Stray-Pedersen, M. Abdelnoor, and C.M. Tallaksen Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study Brain 132 2009 1577 1588
5. J. Wang, L. Shen, L. Lei, Q. Xu, J. Zhou, and Y. Liu Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases Zhong Nan Da Xue Xue Bao Yi Xue Ban 36 2011 482 489
6. T. Matsuura, T. Yamagata, D.L. Burgess, A. Rasmussen, R.P. Grewal, and K. Watase Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 Nat Genet 26 2000 191 194
7. T. Matsuura, M. Achari, M. Khajavi, L.L. Bachinski, H.Y. Zoghbi, and T. Ashizawa Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy Ann Neurol 45 1999 407 411
8. L. Zu, K.P. Figueroa, R. Grewal, and S.M. Pulst Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22 Am J Hum Genet 64 1999 594 599
9. X. Lin, and T. Ashizawa Recent progress in spinocerebellar ataxia type-10 (SCA10) Cerebellum 4 2005 37 42
10. J. Sequeiros, S. Seneca, and J. Martindale Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias Eur J Hum Genet 18 2010 1188 1195
11. T. Almeida, I. Alonso, S. Martins, E.M. Ramos, L. Azevedo, and K. Ohno Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10) PLoS One 4 2009 e4553
12. G. Dean, S. Chamberlain, and L. Middleton Friedreich's ataxia in Kathikas-Arodhes, Cyprus Lancet 1 1988 587
13. E. Zamba-Papanicolaou, P. Koutsou, C. Daiou, E. Gaglia, A. Georghiou, and K. Christodoulou High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus Acta Myol 28 2009 24 26
14. P. Nicolaou, A. Georghiou, C. Votsi, L.T. Middleton, E. Zamba-Papanicolaou, and K. Christodoulou A novel c.5308-5311delGAGA mutation in senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia BMC Med Genet 9 2008 28
15. S. Kraft, S. Furtado, R. Ranawaya, J. Parboosingh, S. Bleoo, and K. McElligott Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic Can J Neurol Sci 32 2005 450 458
16. J.Y. Kim, S.S. Park, S.I. Joo, J.M. Kim, and B.S. Jeon Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7 Mol Cell 12 2001 336 341
17. T. Klockgether Sporadic ataxia with adult onset: classification and diagnostic criteria Lancet Neurol 9 2010 94 104
18. G. Koutsis, S. Pemble, M.G. Sweeney, R. Paudel, N.W. Wood, and M. Panas Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia J Neurol Sci 318 2012 178 180
19. T. Matsuura, L.P. Ranum, V. Volpini, M. Pandolfo, H. Sasaki, and K. Tashiro Spinocerebellar ataxia type 10 is rare in populations other than Mexicans Neurology 58 2002 983 984
20. H.A. Teive, B.B. Roa, S. Raskin, P. Fang, W.O. Arruda, and Y.C. Neto Clinical phenotype of Brazilian families with spinocerebellar ataxia 10 Neurology 63 2004 1509 1512
21. N. Sato, T. Amino, K. Kobayashi, S. Asakawa, T. Ishiguro, and T. Tsunemi Spinocerebellar ataxia type 31 is associated with inserted penta-nucleotide repeats containing (TGGAA)n Am J Hum Genet 85 2009 544 557
22. K. Ishikawa, A. Durr, T. Klopstock, S. Muller, B. De Toffol, and M. Vidailhet Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians Neurology 77 2011 1853 1855