Spinocerebellar ataxia type 31 exists in Northeast China

Journal of the Neurological Sciences

Volumn 316, Issue 1-2, 2012, Pages 164-167

  Ouyang, Yi ^a   He, Zhiyi ^a   Li, Lei ^a   Qin, Xue ^a   Zhao, Yinan ^a   Yuan, Liying ^a  

^a CHINA MEDICAL UNIVERSITY   (China)

Author keywords

16q ADCA; Northeast China; Spinocerebellar ataxia type 31

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CHINA; CLINICAL FEATURE; DYSARTHRIA; FEMALE; GAIT DISORDER; HEARING IMPAIRMENT; HUMAN; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PERONEUS NERVE; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY; SPEECH DISORDER; SPINOCEREBELLAR ATAXIA TYPE 31; SPINOCEREBELLAR DEGENERATION; TENDON REFLEX; TIBIAL NERVE; VIBRATION SENSE;

CHINA; FEMALE; HUMANS; MIDDLE AGED; SPINOCEREBELLAR ATAXIAS; SPINOCEREBELLAR DEGENERATIONS;

EID: 84862794173     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.02.005     Document Type: Article

References (27)

1. A.E. Harding The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of "Drew family of Walworth Brain 105 1982 1 28
2. H.A. Teive Spinocerebellar ataxias Arq Neuropsiquiatr 67 2009 1133 1142
3. H.A. Teive, R.P. Munhoz, and T. Ashizawa New gene of spinocerebellar ataxia Brain 134 Pt 7 2011 e179
4. K. Ishikawa, S. Toru, T. Tsunemi, M. Li, K. Kobayashi, and T. Yokota An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains Am J Hum Genet 77 2005 280 296
5. T. Amino, K. Ishikawa, S. Toru, T. Ishiguro, N. Sato, and T. Tsunemi Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia J Hum Genet 52 2007 643 649
6. 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
7. K. Owada, K. Ishikawa, S. Toru, G. Ishida, M. Gomyoda, and O. Tao A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III Neurology 65 2005 629 632
8. Y. Ouyang, K. Sakoe, H. Shimazaki, M. Namekawa, T. Ogawa, and Y. Ando 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study J Neurol Sci 247 2006 180 186
9. R. Hirano, H. Takashima, R. Okubo, Y. Okamoto, Y. Maki, and S. Ishida Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan J Hum Genet 54 2009 377 381
10. S. Gilman, G.K. Wenning, P.A. Low, D.J. Brooks, C.J. Mathias, and J.Q. Trojanowski Second consensus statement on the diagnosis of multiple system atrophy Neurology 71 2008 670 676
11. M. Namekawa, Y. Takiyama, Y. Ando, K. Sakoe, S. Muramatsu, and K. Fujimoto Choreiform movements in spinocerebellar ataxia type 1 J Neurol Sci 187 2001 103 106
12. K. Sanpei, H. Takano, S. Igarashi, T. Sato, M. Oyake, and H. Sasaki Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT Nat Genet 14 1996 277 284
13. C. Bettencourt, R.N. Fialho, C. Santos, R. Montiel, J. Bruges-Armas, and P. Maciel Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal) J Hum Genet 53 2008 333 339
14. O. Zhuchenko, J. Bailey, P. Bonnen, T. Ashizawa, D.W. Stockton, and C. Amos Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel Nat Genet 15 1997 62 69
15. G. David, N. Abbas, G. Stevanin, A. Durr, G. Yvert, and G. Cancel Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion Nat Genet 17 1997 65 70
16. M.D. Koob, M.L. Moseley, L.J. Schut, K.A. Benzow, T.D. Bird, and J.W. Day An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet 21 1999 379 384
17. A. Brussino, C. Graziano, D. Giobbe, M. Ferrone, E. Dragone, and C. Arduino Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia Mov Disord 25 2010 1269 1273
18. K. Nakamura, S.Y. Jeong, T. Uchihara, T. Anno, K. Nagashima, and T. Nagashima SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein Hum Mol Genet 10 2001 1441 1448
19. Y. Takiyama, K. Sakoe, M. Amaike, M. Soutome, T. Ogawa, and I. Nakano Single sperm analysis of the CAG repeats in the gene for dentatorubral- pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases Hum Mol Genet 8 1999 453 457
20. H. Sakai, K. Yoshida, Y. Shimizu, H. Morita, S. Ikeda, and N. Matsumoto Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan Neurogenetics 11 2010 409 415
21. P.H. Lee, H.Y. Park, S.Y. Jeong, J.H. Hong, and H.J. Kim 16q-linked autosomal dominant cerebellar ataxia in a Korean family Eur J Neurol 14 2007 e16
22. K. Ishikawa, A. Dürr, T. Klopstock, S. Müller, B. De Toffol, and M. Vidailhet Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians Neurology 77 2011 1853 1855
23. 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
24. Y. Furiya, M. Hirano, M. Nomura, H. Asai, T. Kiriyama, and S. Ueno Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia J Neurol Neurosurg Psychiatry 78 2007 1009 1011
25. K. Ishikawa, and H. Mizusawa The chromosome 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA*): a newly identified degenerative ataxia in Japan showing peculiar morphological changes of the Purkinje cell Neuropathology Jul. 27 2010 [Epub ahead of print]
26. G. Stevanin, and A. Brice Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4) Cerebellum 7 2008 170 178
27. S. Raskin, T. Ashizawa, H.A. Teive, W.O. Arruda, P. Fang, and R. Gao Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10 Arch Neurol 64 2007 591 594