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; R. L. Margolis; H. P. Lipe; A. Feleke; M. Matsushita; J. Wolff; C. Morgan; D. Lau; M. Fernandez; H. Sasaki; W. H. Raskind; Thomas D. Bird

doi:10.1212/01.WNL.0000156801.64549.6B

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, R. L. Margolis, H. P. Lipe, A. Feleke, M. Matsushita, J. Wolff, C. Morgan, D. Lau, M. Fernandez, H. Sasaki, W. H. Raskind, Thomas D. Bird

School of Medicine

Research output: Contribution to journal › Article › peer-review

65 Scopus citations

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 language	English (US)
Pages (from-to)	1258-1260
Number of pages	3
Journal	Neurology
Volume	64
Issue number	7
DOIs	https://doi.org/10.1212/01.WNL.0000156801.64549.6B
State	Published - Apr 12 2005

ASJC Scopus subject areas

Clinical Neurology

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Chen, D. H., Cimino, P. J., Ranum, L. P. W., Zoghbi, H. Y., Yabe, I., Schut, L., Margolis, R. L., Lipe, H. P., Feleke, A., Matsushita, M., Wolff, J., Morgan, C., Lau, D., Fernandez, M., Sasaki, H., Raskind, W. H., & Bird, T. D. (2005). The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology, 64(7), 1258-1260. https://doi.org/10.1212/01.WNL.0000156801.64549.6B

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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.",

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AU - Chen, D. H.

AU - Cimino, P. J.

AU - Ranum, L. P.W.

AU - Zoghbi, H. Y.

AU - Yabe, I.

AU - Schut, L.

AU - Margolis, R. L.

AU - Lipe, H. P.

AU - Feleke, A.

AU - Matsushita, M.

AU - Wolff, J.

AU - Morgan, C.

AU - Lau, D.

AU - Fernandez, M.

AU - Sasaki, H.

AU - Raskind, W. H.

AU - Bird, Thomas D.

PY - 2005/4/12

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N2 - 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.

AB - 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.

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The clinical and genetic spectrum of spinocerebellar ataxia 14

Abstract

ASJC Scopus subject areas

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