The clinical and genetic spectrum of spinocerebellar ataxia 14

D. H. Chen, P. J. Cimino, L. P W Ranum, H. Y. Zoghbi, I. Yabe, L. Schut, Russell Louis Margolis, H. P. Lipe, A. Feleke, M. Matsushita, J. Wolff, C. Morgan, D. Lau, M. Fernandez, H. Sasaki, W. H. Raskind, Thomas D. Bird

Research output: Contribution to journalArticle

Abstract

Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C γ gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described.

Original languageEnglish (US)
Pages (from-to)1258-1260
Number of pages3
JournalNeurology
Volume64
Issue number7
StatePublished - Apr 12 2005

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Missense Mutation
Protein Kinase C
Genetic Association Studies
Ataxia
Genes
Nucleotides
Mutation
Spinocerebellar ataxia 14

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Chen, D. H., Cimino, P. J., Ranum, L. P. W., Zoghbi, H. Y., Yabe, I., Schut, L., ... Bird, T. D. (2005). The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology, 64(7), 1258-1260.

The clinical and genetic spectrum of spinocerebellar ataxia 14. / Chen, D. H.; Cimino, P. J.; Ranum, L. P W; Zoghbi, H. Y.; Yabe, I.; Schut, L.; Margolis, Russell Louis; Lipe, H. P.; Feleke, A.; Matsushita, M.; Wolff, J.; Morgan, C.; Lau, D.; Fernandez, M.; Sasaki, H.; Raskind, W. H.; Bird, Thomas D.

In: Neurology, Vol. 64, No. 7, 12.04.2005, p. 1258-1260.

Research output: Contribution to journalArticle

Chen, DH, Cimino, PJ, Ranum, LPW, Zoghbi, HY, Yabe, I, Schut, L, Margolis, RL, Lipe, HP, Feleke, A, Matsushita, M, Wolff, J, Morgan, C, Lau, D, Fernandez, M, Sasaki, H, Raskind, WH & Bird, TD 2005, 'The clinical and genetic spectrum of spinocerebellar ataxia 14', Neurology, vol. 64, no. 7, pp. 1258-1260.
Chen DH, Cimino PJ, Ranum LPW, Zoghbi HY, Yabe I, Schut L et al. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12;64(7):1258-1260.
Chen, D. H. ; Cimino, P. J. ; Ranum, L. P W ; Zoghbi, H. Y. ; Yabe, I. ; Schut, L. ; Margolis, Russell Louis ; Lipe, H. P. ; Feleke, A. ; Matsushita, M. ; Wolff, J. ; Morgan, C. ; Lau, D. ; Fernandez, M. ; Sasaki, H. ; Raskind, W. H. ; Bird, Thomas D. / The clinical and genetic spectrum of spinocerebellar ataxia 14. In: Neurology. 2005 ; Vol. 64, No. 7. pp. 1258-1260.
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