Spinocerebellar ataxia type 11 in the Chinese Han population

Neurological Sciences

Volumn 31, Issue 1, 2010, Pages 107-109

  Xu, Qian ^a   Li, Xiaohui ^a   Wang, Junling ^a   Yi, Jiping ^a   Lei, Lifang ^b   Shen, Lu ^a,b   Jiang, Hong ^a,b   Xia, Kun ^b   Pan, Qian ^b   Tang, Beisha ^a,b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

DHPLC; SCA11; Spinocerebellar ataxias; TTBK2 gene

Indexed keywords

PROTEIN TTBK2; TUBULIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE CLASSIFICATION; FEMALE; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CODE; GENETIC DIFFERENCE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; SCHOOL CHILD; SPINOCEREBELLAR DEGENERATION;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHINA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; PROTEIN-SERINE-THREONINE KINASES; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 76449084313     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-009-0129-4     Document Type: Article

References (15)

1. Y Ikeda KA Dick MR Weatherspoon, et al. 2006 Spectrin mutations cause spinocerebellar ataxia type 5 Nat Genet 38 184 190
2. H Houlden J Johnson C Gardner-Thorpe, et al. 2007 Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 Nat Genet 39 1434 1436
3. MF Waters NA Minassian G Stevanin, et al. 2006 Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes Nat Genet 38 447 451
4. I Yabe H Sasaki DH Chen, et al. 2003 Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma Arch Neurol 60 1749 1751
5. JC Van Swieten E Brusse BM de Graaf, et al. 2003 A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia Am J Hum Genet 72 191 199 10.1086/345488 12489043 (Pubitemid 36056856)
6. K Ishikawa S Toru T Tsunemi, et al. 2005 An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single nucleotide substitution in the 5-prime untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine nucleotide exchange factor domains Am J Hum Genet 77 280 296
7. A Iwaki Y Kawano S Miura, et al. 2008 Heterozygons deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16 J Med Genet 45 32 35
8. RJM Gardner 2008 "SCA16" is really SCA15 J Med Genet 45 192
9. PF Worth P Giunti C Gardner-Thorpe, et al. 1999 Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3 Am J Hum Genet 65 420 426
10. J Johnson N Wood P Giunti H Houlden 2008 Clinical and genetic analysis of spinocerebellar ataxia type 11 Cerebellum 7 159 164
11. BS Tang CY Liu L Shen, et al. 2000 Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds Arch Neurol 57 540 544
12. JL Wang H Jiang S Zhang, et al. 2008 Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han J Genet 87 283 286
13. Harding AE, Deufel T (1993) Clinical features and classification of inherited ataxias. In: Harding AE, Deufel T (eds) Inherited ataxias. Raven, New York, pp 1-14
14. K Kosaki T Udaka T Okuyama 2005 DHPLC in clinical molecular diagnostic services Mol Genet Metab 86 117 123
15. M Crépin P Pigny F Escande, et al. 2006 Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene J Mol Endocrinol 36 369 376