Brief Communication abstract
Nature Genetics 39, 1434 - 1436 (2007)
Published online: 25 November 2007 | doi:10.1038/ng.2007.43
There is an Erratum (February 2008) associated with this Brief Communication.
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
Henry Houlden1, Janel Johnson1,2, Christopher Gardner-Thorpe3, Tammaryn Lashley1, Dena Hernandez2, Paul Worth4, Andrew B Singleton2, David A Hilton5, Janice Holton1, Tamas Revesz1, Mary B Davis1, Paolo Giunti1 & Nicholas W Wood1
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.
- Departments of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
- Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.
- Royal Devon and Exeter Hospital (Wonford), Barrack Road, Exeter, Devon EX2 5DW, UK.
- Department of Neurology, Norfolk and Norwich University Hospital National Health Service Trust, Norwich NR4 7UY, UK.
- Department of Histopathology, Derriford Hospital, Plymouth PL6 8DH, UK.
Correspondence to: Henry Houlden1 e-mail: h.houlden@ion.ucl.ac.uk
Correspondence to: Nicholas W Wood1 e-mail: n.wood@ion.ucl.ac.uk
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