Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6

Chinese Medical Journal

Volumn 118, Issue 10, 2005, Pages 837-843

  Jiang, Hong ^a   Tang, Bei Sha ^a   Xu, Bo ^a   Zhao, Guo Hua ^a   Shen, Lu ^a   Tang, Jian Guang ^a   Li, Qing Hua ^a   Xia, Kun ^b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Gene diagnosis; Hereditary spinocerebellar ataxia; Trinucleotide repeat

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 6; ATAXIN 7; TATA BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DOMINANT INHERITANCE; FAMILY STUDY; FEMALE; FREQUENCY ANALYSIS; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINOCEREBELLAR DEGENERATION;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CALCIUM CHANNELS; FEMALE; GENE FREQUENCY; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEATS;

EID: 19944367927     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
2. Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:285-291.
3. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
4. Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-284.
5. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32. 1. Nat Genet 1994;8: 221-228.
6. IA-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
7. David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
8. Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21: 379-384.
9. Matsuura T, Yamagata T, Burgess DL, et al. Large expansion of ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nature Genet 2000;26: 191-194.
10. Holmes SE, O'Hearn EE, McInnis MG, et al. Expansion of a novel CAG trinucleotide repeat in the 5-prime region of a PPP2R2Bβ is associated with SCA12. Nature Genet 1999;23:391-392.
11. Yabe I, Sasaki H, Chen DH, et al. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 2003;60:1749-1751.
12. Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Molec Genet 2001;10:1441-1448.
13. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
14. Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trnucleotide on chromosome 12p. Nat Genet 1994;6:14-18.
15. Takano H, Cancel G, Ikeuchi T, et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet 1998;63:1060-1066.
16. Silveira I, Coutinho P, Macie P, et al. Analysis of SCA1, DRPLA, MJD, SCA2 and SCA6 CAG repeats in 48 Portuguese ataxia families. Am J Med Genet 1998; 81:134-138.
17. Soong BW, Lu YC, Choo KB, et al. Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Arch Neurol 2001;38:1105-1109.
18. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14.
19. Sambrook J, Russel DW. Molecular Cloning: A Laboratory manual, 3rd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 2001.
20. Maruyama H, Kawakami H, Nakamura S. Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR. Hum Genet 1996;97:591-595.
21. Tang BS, Xia JH, Wang DA, et al. CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxia. Chin J Med Genet (Chin) 1999;16:281-284.
22. Tang BS, Wang DA, Xia JH, et al. SCA1, SCA2, MJD/SCA3 (CAG) n mutation detection and analysis in patients with hereditary spinocerebellar ataxia from Chinese families. Natl Med J China (Chin) 1997;77: 819-822.
23. Tang BS, Liu CY, Shen L, et al. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7 and DRPLA trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol 2000;57:540-544.
24. Gu WH, Wang GX, Wang YQ, et al. Clinical and molecular biological study on olivopontocerebellar atrophy with retinal degeneration. Chin J Neurol (Chin) 2000;33:93-97.
25. Xie QY, Liang XL, Li XH, et al. Molecular genetic diagnosis and clinical analysis on spinocerebellar ataxia type 12. J SUN Yat-sen Univ (Med Sci) (Chin) 2004; 25:138-140,145.
26. Stevanin G, Durr A, David G, et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997;49:1243-1246.
27. Zoghbi HY. CAG repeats in SCA6: anticipating new clues. Neurology 1997;49:1196-1199.
28. Schols L, Kruger R, Amoiridis G, et al. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 1998;64:67-73.
29. Matsuyama Z, Kawakami H, Maruyama H, et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 1997;6:1283-1287.
30. 2+ channel gene CACNL1A4. Cell 1996;87:543-552.
31. Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann Neurol 1996;39:490-499.
32. Geschwind DH, Perlman S, Figueroa KP, et al. Spinocerebellar ataxia type 6: frequency of the mutation and genotype-phenotype correlations. Neurology 1997; 49:1247-1251.
33. Matsumura R, Futamura N, Fujimoto Y, et al. Spinocerebellar ataxia type 6: molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997;49:1238-1243.
34. Maciel P, Gaspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995;57: 54-61.
35. Komure O, Sano A, Nishino N, et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 1995;45:143-149.
36. Zühlke C, Riess O, Bockel B, et al. Mitotic stability and meiotic variability of the (CAG) n repeat in the Huntington disease gene. Hum Mol Genet 1993; 2: 2063-2067.
37. Telenius H, Kremer B, Goldberg YP, et al. Somatic and gonadal mosaicism of the Huntington desease gene CAG repeat in brain and sperm. Nat Genet 1994;6: 409-414.
38. Ueno S, Kondoh K, Kotani Y, et al. Somatic mosaicism of CAG repeat in dentato- rubral-pallidoluysian atrophy (DRPLA). Hum Mol Genet 1995;4:663-666.