The clinical and genetic spectrum of spinocerebellar ataxia 14

被引：60

作者：

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

机构：

[1] GRECC, Seattle, WA 98108 USA

[2] Univ Washington, Dept Neurol, Seattle, WA 98195 USA

[3] Univ Washington, Dept Med, Seattle, WA 98195 USA

[4] Univ Minnesota, Inst Human Genet, Minneapolis, MN 55455 USA

[5] Baylor Univ, Dept Human Mol Genet, Houston, TX 77030 USA

[6] Hokkaido Univ, Dept Neurol, Sapporo, Hokkaido, Japan

[7] CentraCare Clin, St Cloud, MN USA

[8] Johns Hopkins Univ, Dept Psychiat, Baltimore, MD USA

[9] Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA

[10] VAPSHCS, Mental Illness Res Educ & Clin Ctr, Seattle, WA USA

来源：

NEUROLOGY | 2005年 / 64卷 / 07期

关键词：

D O I：

10.1212/01.WNL.0000156801.64549.6B

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma 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.

引用

收藏

页码：1258 / 1260

页数：3

相关论文

共 10 条

[1]

ALONSO I, 2004, AM J HUM GENET S, V75, P435

[2]

BIRD TD, 1997, GENEREVIEWS GENETEST

[3] A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter [J].

Brkanac, Z ;

Bylenok, L ;

Fernandez, M ;

Matsushita, M ;

Lipe, H ;

Wolff, J ;

Nochlin, D ;

Raskind, WH ;

Bird, TD .

ARCHIVES OF NEUROLOGY, 2002, 59 (08) :1291-1295

[4] Impaired motor coordination correlates with persistent multiple climbing fiber innervation in PKC gamma mutant mice [J].

Chen, C ;

Kano, M ;

Abeliovich, A ;

Chen, L ;

Bao, SW ;

Kim, JJ ;

Hashimoto, K ;

Thompson, RF ;

Tonegawa, S .

CELL, 1995, 83 (07) :1233-1242

[5] Missense mutations in the regulatory domain of PKCγ:: A new mechanism for dominant nonepisodic cerebellar ataxia [J].

Chen, DH ;

Brkanac, Z ;

Verlinde, CLMJ ;

Tan, XJ ;

Bylenok, L ;

Nochlin, D ;

Matsushita, M ;

Lipe, H ;

Wolff, J ;

Fernandez, M ;

Cimino, PJ ;

Bird, TD ;

Raskind, WH .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (04) :839-849

[6] Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1 [J].

Chen, HK ;

Fernandez-Funez, P ;

Acevedo, SF ;

Lam, YC ;

Kaytor, MD ;

Fernandez, MH ;

Aitken, A ;

Skoulakis, EMC ;

Orr, HT ;

Botas, J ;

Zoghbi, HY .

CELL, 2003, 113 (04) :457-468

[7] Altered trafficking of membrane proteins in Purkinje cells of SCA1 transgenic mice [J].

Skinner, PJ ;

Vierra-Green, CA ;

Clark, HB ;

Zoghbi, HY ;

Orr, HT .

AMERICAN JOURNAL OF PATHOLOGY, 2001, 159 (03) :905-913

[8] Mutation in the catalytic domain of protein kinase Cγ and extension of the phenotype associated with spinocerebellar ataxia type 14 [J].

Stevanin, G ;

Hahn, V ;

Lohmann, E ;

Bouslam, N ;

Gouttard, M ;

Soumphonphakdy, C ;

Welter, ML ;

Ollagnon-Roman, E ;

Lemainque, A ;

Ruberg, M ;

Brice, A ;

Durr, A .

ARCHIVES OF NEUROLOGY, 2004, 61 (08) :1242-1248

[9] Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family [J].

van de Warrenburg, BPC ;

Verbeek, DS ;

Piersma, SJ ;

Hennekam, FAM ;

Pearson, PL ;

Knoers, NVAM ;

Kremer, HPH ;

Sinke, RJ .

NEUROLOGY, 2003, 61 (12) :1760-1765

[10] Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C γ [J].

Yabe, I ;

Sasaki, H ;

Chen, DH ;

Raskind, WH ;

Bird, TD ;

Yamashita, I ;

Tsuji, S ;

Kikuchi, S ;

Tashiro, K .

ARCHIVES OF NEUROLOGY, 2003, 60 (12) :1749-1751