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Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
Authors: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 Paola  Giunti Paolo  Wood Nicholas W
Affiliation:Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. h.houlden@ion.ucl.ac.uk
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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