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Brief Communication

Nature Genetics 39, 1434–1436 (1 December 2007) | doi:10.1038/ng.2007.43

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

Henry Houlden , Janel Johnson , Christopher Gardner-Thorpe , Tammaryn Lashley , Dena Hernandez , Paul Worth , Andrew B Singleton , David A Hilton , Janice Holton , Tamas Revesz , Mary B Davis , Paolo Giunti & Nicholas W Wood

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.