2. Academic Validation
  3. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

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

  • Nat Genet. 2007 Dec;39(12):1434-6. doi: 10.1038/ng.2007.43.
Henry Houlden 1,  Janel Johnson,  Christopher Gardner-Thorpe,  Tammaryn Lashley,  Dena Hernandez,  Paul Worth,  Andrew B Singleton,  David A Hilton,  Janice Holton,  Tamas Revesz,  Mary B Davis,  Paola Giunti,  Nicholas W Wood
Affiliations

Affiliation

  • 1 Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. [email protected]
PMID: 18037885 DOI: 10.1038/ng.2007.43
Abstract

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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