Spinocerebellar ataxia type 6

CAG trinucleotide expansion, clinical characteristics and sperm analysis

M. Shizuka, M. Watanabe, Y. Ikeda, K. Mizushima, M. Kanai, T. Tsuda, Koji Abe, K. Okamoto, M. Shoji

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant spinocerebellar degeneration caused by CAG repeat expansions in the human α1A voltage-dependent calcium channel subunit gene. We analyzed 16 SCA6 patients in 14 unrelated Japanese families, and documented the clinical and molecular properties correlating with the CAG repeat expansion. Three of them were sporadic. The CAG repeat number of the expanded and normal alleles was 22.7 ± 2.0 (mean ± SD, n = 15) and 13.8 ± 2.0 (n = 15), respectively, and the repeat size of the expanded alleles correlated inversely with age at onset. The patients presented here were clinically characterized by a slowly progressive cerebellar ataxia and nystagmus. In leukocytes, the strict pattern of the peak in the expanded allele on polyacrylamide gel electrophoresis did not show the presence of cell mosaicism in SCAB, in contrast to other trinucleotide disorders. Moreover, in each patient, the number of CAG repeats in sperm was the same as in leukocytes, and the expanded alleles in sperm indicated uniform peaks as well. In our geographic area, the frequency of SCA6 was as high as MJD, in contrast to the low frequency of other autosomal dominant cerebellar ataxias. Thus, a geographic difference in the frequency of autosomal dominant spinocerebellar ataxias may be present in Japan.

Original languageEnglish
Pages (from-to)381-387
Number of pages7
JournalEuropean Journal of Neurology
Volume5
Issue number4
Publication statusPublished - 1998
Externally publishedYes

Fingerprint

Spinocerebellar Ataxias
Spermatozoa
Alleles
Cerebellar Ataxia
Leukocytes
Spinocerebellar Degenerations
Mosaicism
Calcium Channels
Age of Onset
Polyacrylamide Gel Electrophoresis
Japan
Genes

Keywords

  • CAG repeats
  • Cell mosaicism
  • Sperm
  • Spinocerebellar ataxia type 6

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Shizuka, M., Watanabe, M., Ikeda, Y., Mizushima, K., Kanai, M., Tsuda, T., ... Shoji, M. (1998). Spinocerebellar ataxia type 6: CAG trinucleotide expansion, clinical characteristics and sperm analysis. European Journal of Neurology, 5(4), 381-387.

Spinocerebellar ataxia type 6 : CAG trinucleotide expansion, clinical characteristics and sperm analysis. / Shizuka, M.; Watanabe, M.; Ikeda, Y.; Mizushima, K.; Kanai, M.; Tsuda, T.; Abe, Koji; Okamoto, K.; Shoji, M.

In: European Journal of Neurology, Vol. 5, No. 4, 1998, p. 381-387.

Research output: Contribution to journalArticle

Shizuka, M, Watanabe, M, Ikeda, Y, Mizushima, K, Kanai, M, Tsuda, T, Abe, K, Okamoto, K & Shoji, M 1998, 'Spinocerebellar ataxia type 6: CAG trinucleotide expansion, clinical characteristics and sperm analysis', European Journal of Neurology, vol. 5, no. 4, pp. 381-387.
Shizuka M, Watanabe M, Ikeda Y, Mizushima K, Kanai M, Tsuda T et al. Spinocerebellar ataxia type 6: CAG trinucleotide expansion, clinical characteristics and sperm analysis. European Journal of Neurology. 1998;5(4):381-387.
Shizuka, M. ; Watanabe, M. ; Ikeda, Y. ; Mizushima, K. ; Kanai, M. ; Tsuda, T. ; Abe, Koji ; Okamoto, K. ; Shoji, M. / Spinocerebellar ataxia type 6 : CAG trinucleotide expansion, clinical characteristics and sperm analysis. In: European Journal of Neurology. 1998 ; Vol. 5, No. 4. pp. 381-387.
@article{8cc297bb848543c0ae90db471a8ce9d0,
title = "Spinocerebellar ataxia type 6: CAG trinucleotide expansion, clinical characteristics and sperm analysis",
abstract = "Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant spinocerebellar degeneration caused by CAG repeat expansions in the human α1A voltage-dependent calcium channel subunit gene. We analyzed 16 SCA6 patients in 14 unrelated Japanese families, and documented the clinical and molecular properties correlating with the CAG repeat expansion. Three of them were sporadic. The CAG repeat number of the expanded and normal alleles was 22.7 ± 2.0 (mean ± SD, n = 15) and 13.8 ± 2.0 (n = 15), respectively, and the repeat size of the expanded alleles correlated inversely with age at onset. The patients presented here were clinically characterized by a slowly progressive cerebellar ataxia and nystagmus. In leukocytes, the strict pattern of the peak in the expanded allele on polyacrylamide gel electrophoresis did not show the presence of cell mosaicism in SCAB, in contrast to other trinucleotide disorders. Moreover, in each patient, the number of CAG repeats in sperm was the same as in leukocytes, and the expanded alleles in sperm indicated uniform peaks as well. In our geographic area, the frequency of SCA6 was as high as MJD, in contrast to the low frequency of other autosomal dominant cerebellar ataxias. Thus, a geographic difference in the frequency of autosomal dominant spinocerebellar ataxias may be present in Japan.",
keywords = "CAG repeats, Cell mosaicism, Sperm, Spinocerebellar ataxia type 6",
author = "M. Shizuka and M. Watanabe and Y. Ikeda and K. Mizushima and M. Kanai and T. Tsuda and Koji Abe and K. Okamoto and M. Shoji",
year = "1998",
language = "English",
volume = "5",
pages = "381--387",
journal = "European Journal of Neurology",
issn = "1351-5101",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - Spinocerebellar ataxia type 6

T2 - CAG trinucleotide expansion, clinical characteristics and sperm analysis

AU - Shizuka, M.

AU - Watanabe, M.

AU - Ikeda, Y.

AU - Mizushima, K.

AU - Kanai, M.

AU - Tsuda, T.

AU - Abe, Koji

AU - Okamoto, K.

AU - Shoji, M.

PY - 1998

Y1 - 1998

N2 - Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant spinocerebellar degeneration caused by CAG repeat expansions in the human α1A voltage-dependent calcium channel subunit gene. We analyzed 16 SCA6 patients in 14 unrelated Japanese families, and documented the clinical and molecular properties correlating with the CAG repeat expansion. Three of them were sporadic. The CAG repeat number of the expanded and normal alleles was 22.7 ± 2.0 (mean ± SD, n = 15) and 13.8 ± 2.0 (n = 15), respectively, and the repeat size of the expanded alleles correlated inversely with age at onset. The patients presented here were clinically characterized by a slowly progressive cerebellar ataxia and nystagmus. In leukocytes, the strict pattern of the peak in the expanded allele on polyacrylamide gel electrophoresis did not show the presence of cell mosaicism in SCAB, in contrast to other trinucleotide disorders. Moreover, in each patient, the number of CAG repeats in sperm was the same as in leukocytes, and the expanded alleles in sperm indicated uniform peaks as well. In our geographic area, the frequency of SCA6 was as high as MJD, in contrast to the low frequency of other autosomal dominant cerebellar ataxias. Thus, a geographic difference in the frequency of autosomal dominant spinocerebellar ataxias may be present in Japan.

AB - Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant spinocerebellar degeneration caused by CAG repeat expansions in the human α1A voltage-dependent calcium channel subunit gene. We analyzed 16 SCA6 patients in 14 unrelated Japanese families, and documented the clinical and molecular properties correlating with the CAG repeat expansion. Three of them were sporadic. The CAG repeat number of the expanded and normal alleles was 22.7 ± 2.0 (mean ± SD, n = 15) and 13.8 ± 2.0 (n = 15), respectively, and the repeat size of the expanded alleles correlated inversely with age at onset. The patients presented here were clinically characterized by a slowly progressive cerebellar ataxia and nystagmus. In leukocytes, the strict pattern of the peak in the expanded allele on polyacrylamide gel electrophoresis did not show the presence of cell mosaicism in SCAB, in contrast to other trinucleotide disorders. Moreover, in each patient, the number of CAG repeats in sperm was the same as in leukocytes, and the expanded alleles in sperm indicated uniform peaks as well. In our geographic area, the frequency of SCA6 was as high as MJD, in contrast to the low frequency of other autosomal dominant cerebellar ataxias. Thus, a geographic difference in the frequency of autosomal dominant spinocerebellar ataxias may be present in Japan.

KW - CAG repeats

KW - Cell mosaicism

KW - Sperm

KW - Spinocerebellar ataxia type 6

UR - http://www.scopus.com/inward/record.url?scp=0031881113&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031881113&partnerID=8YFLogxK

M3 - Article

VL - 5

SP - 381

EP - 387

JO - European Journal of Neurology

JF - European Journal of Neurology

SN - 1351-5101

IS - 4

ER -