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Nat Genet. 2007 Dec;39(12):1434-6. Epub 2007 Nov 25.

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

Author information

  • 1Department 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

Erratum in

  • Nat Genet. 2008 Feb;40(2):255. Giunti, Paolo [corrected to Giunti, Paola].

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.

PMID:
18037885
[PubMed - indexed for MEDLINE]
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