Clinical and genetic study of spinocerebellar ataxia type 7 in East asian population

Chinese Medical Journal

Volumn 123, Issue 16, 2010, Pages 2274-2278

  Han, Yan ^a   Yu, Long ^a   Zheng, Hui Min ^a   Guan, Yang Tai ^a  

^a SECOND MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Clinical features; East asia; Genetics; Spinocerebellar ataxia type 7

Indexed keywords

ARTICLE; BRAIN ATROPHY; CAG REPEAT; CHINA; CLINICAL FEATURE; DYSARTHRIA; GAIT DISORDER; HONG KONG; HUMAN; JAPAN; KOREA; NEUROIMAGING; ONSET AGE; POPULATION GENETICS; PREVALENCE; SPINOCEREBELLAR DEGENERATION; SYSTEMATIC REVIEW; TAIWAN; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; FAR EAST; FEMALE; HUMANS; MALE; MIDDLE AGED; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 77956116922     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2010.16.022     Document Type: Article

References (32)

1. Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the "the Drew family of Walworth". Brain 1982; 105: 1-28.
2. Konigsmark BW, Weiner LP. The olivopontocerebellar atrophies: a review. Medicine 1970; 49: 227-241.
3. Holmberg M, Johansson J, Forsgren L, Heijbel J, Sandgren O, Holmgren G. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet 1995; 4: 1441-1445.
4. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004; 3: 291-304.
5. Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, et al. 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 2000; 57: 540-544.
6. Jiang H, Tang BS, Xu B, Zhao GH, Shen L, Tang JG, et al. Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Chin Med J 2005; 118: 837-843.
7. Soong BW, Lu YC, Choo KB, Lee HY. Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Arch Neurol 2001; 58: 1105-1109.
8. Tsai HF, Liu CS, Leu TM, Wen FC, Lin SJ, Liu CC, et al. Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan. Acta Neurol Scand 2004; 109: 355-360.
9. Lau KK, Lam K, Shiu KL, Au KM, Tsoi TH, Chan AY, et al. Clinical features of hereditary spinocerebellar ataxia diagnosed by molecular genetic analysis. Hong Kong Med J 2004; 10: 255-259.
10. Sasaki H, Yabe I, Yamashita I, Tashiro K. Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan. J Neurol Sci 2000; 175: 45-51.
11. Onodera Y, Aoki M, Tsuda T, Kato H, Nagata T, Kameya T, et al. High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan. J Neurol Sci 2000; 178: 153-158.
12. Mori M, Adachi Y, Kusumi M, Nakashima K. A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan. Neuroepidemiology 2001; 20: 144-149.
13. Matsumura R, Futamura N, Ando N, Ueno S. Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan. Acta Neurol Scand 2003; 107: 38-41.
14. Shimizu Y, Yoshida K, Okano T, Ohara S, Hashimoto T, Fukushima Y, et al. Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. J Hum Genet 2004; 49: 610-616.
15. Hayashi M, Adachi Y, Mori M, Nakano T, Nakashima K. Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan. Acta Neurol Scand 2007; 116: 123-127.
16. Jin DK, Oh MR, Song SM, Koh SW, Lee M, Kim GM, et al. Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia. J Neurol 1999; 246: 207-210.
17. Kim JY, Park SS, Joo SI, Kim JM, Jeon BS. Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7. Mol Cells 2001; 12: 336-341.
18. Lee WY, Jin DK, Oh MR, Lee JE, Song SM, Lee EA, et al. Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients. Arch Neurol 2003; 60: 858-863.
19. Gu W, Wang Y, Liu X, Zhou B, Zhou Y, Wang G. Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. Arch Neurol 2000; 57: 1513-1518.
20. Lin Y, Zheng JY, Jin YH, Xie YC, Jin ZB. Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia. Neurosci Lett 2008; 434: 230-233.
21. Hsieh M, Lin SJ, Chen JF, Lin HM, Hsiao KM, Li SY, et al. Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. J Neurol 2000; 247: 623-629.
22. Abe T, Tsuda T, Yoshida M, Wada Y, Kano T, Itoyama Y, et al. Macular degeneration associated with aberrant expansion of trinucleotide repeat of the SCA7 gene in 2 Japanese families. Arch Ophthalmol 2000; 118: 1415-1421.
23. Kim BC, Kim MK, Cho KH, Jeon BS. Spinocerebellar ataxia type 7 without retinal degeneration: a case report. J Korean Med Sci 2002; 17: 577-579.
24. Bang OY, Lee PH, Kim SY, Kim HJ, Huh K. Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. J Neurol Neurosurg Psychiatry 2004; 75: 1452-1456.
25. Ahn JK, Seo JM, Chung H, Yu HG. Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7. Am J Ophthalmol 2005; 139: 923-925.
26. Michalik A, Martin JJ, Van Broeckhoven C. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet 2004; 12: 2-15.
27. Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, et al. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. Hum Genet 1999; 104: 516-522.
28. Filla A, Mariotti C, Caruso G, Coppola G, Cocozza S, Castaldo I, et al. Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families. Eur Neurol 2000; 44: 31-36.
29. Moseley ML, Benzow KA, Schut LJ, Bird TD, Gomez CM, Barkhaus PE, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998; 51: 1666-1671.
30. Hugosson T, Gränse L, Ponjavic V, Andréasson S. Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). Ophthalmic Genet 2009; 30: 1-6.
31. Forsgren L, Libelius R, Holmberg M, von Döbeln U, Wibom R, Heijbel J, et al. Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1. J Neurol Sci 1996; 144: 91-98.
32. Modi G. Morphological abnormalities of hepatic mitochondria in two patients with spinocerebellar ataxia type 7. J Neurol Neurosurg Psychiatry 2000; 68: 393-394.