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

• DOI: 10.1038/ng.2007.43
• Publication Date: 2007-11-25T18:37:04Z
• Authors: Henry Houlden; Janel Johnson; Christopher Gardn...; Tammaryn Lashley; Dena Hernandez; Paul Worth; Andrew B Singleton; David A Hilton; Janice Holton; Tamas Revesz; Mary B Davis; Paolo Giunti; Nicholas W Wood
• Keywords: Tau protein; Degeneration (medical)

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.