Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

被引：137

作者：

Houlden, Henry

Johnson, Janel

Gardner-Thorpe, Christopher

Lashley, Tammaryn

Hernandez, Dena

Worth, Paul

Singleton, Andrew B.

Hilton, David A.

Holton, Janice

Revesz, Tamas

Davis, Mary B.

Giunti, Paolo

Wood, Nicholas W.

机构：

[1] UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[2] NIA, NIH, Neurogenet Lab, Mol Genet Unit, Bethesda, MD 20892 USA

[3] Royal Devon & Exeter Hosp, Exeter EX2 5DW, Devon, England

[4] Norwich Univ Hosp, Dept Neurol, Natl Hlth Serv, Norwich NR4 7UY, Norfolk, England

[5] Derriford Hosp, Dept Histopathol, Plymouth PL6 8DH, Devon, England

来源：

NATURE GENETICS | 2007年 / 39卷 / 12期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/ng.2007.43

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The microtubule-associated protein tau ( encoded by MAPT) and several tau kinases have been implicated in neurodegeneration, but only MAPT has a proven role in disease. We identified mutations in the gene encoding tau tubulin kinase 2 ( TTBK2) as the cause of spinocerebellar ataxia type 11. Affected brain tissue showed substantial cerebellar degeneration and tau deposition. These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration.

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页码：1434 / 1436

页数：3

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