Journal article

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Katherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, Eva Andermann, John Damiano, Michela Morbin, Amalia C Bruni, Giorgio Giaccone, Patrick Cossette, Paul Saftig, Joachim Groetzinger, Michael Schwake, Frederick Andermann, John F Staropoli, Katherine B Sims, Sara E Mole, Silvana Franceschetti, Noreen A Alexander, Jonathan D Cooper, Harold A Chapman Show all

HUMAN MOLECULAR GENETICS | OXFORD UNIV PRESS | Published : 2013

Abstract

Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and genetically heterogeneous. Mutations in CLN6 were recently identified in recessive Kufs disease presenting as progressive myoclonus epilepsy (Type A), whereas the molecular basis of cases presenting with dementia and motor features (Type B) is unknown. We performed genome-wide linkage mapping of two families with recessive Type B Kufs disease and identified a single region on chromosome 11 to which both families showed linkage. Exome sequencing of five samples from the two families identified homozygous and compound heterozygous missense mutations in CTSF within this linkage region. We subsequently se..

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Grants

Awarded by Australian Government National Health and Medical Research Council


Awarded by Australian Research Council


Awarded by Deutsche Forschungsgemeinschaft


Awarded by National Institutes of Health


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

This work was supported by the Australian Government National Health and Medical Research Council (490037 to M.B., 628952 and 466671 to S.F.B., the Independent Research Institute Infrastructure Support Scheme to M.B. and K.R.S.); The Australian Research Council (FT100100764 to M.B.); the Victorian State Government (Operational Infrastructure Program to M.B. and K.R.S.); the Deutsche Forschungsgemeinschaft (SFB877 to P.S., J.G. and M.S.); the National Institutes of Health (NS41930 to J.D.C.); the Pratt Foundation (to K.R.S.), The Batten Disease Support and Research Association (to S.E.M., J.D.C., J.M.S. and K.B.S.) and the Natalie Fund (to J.D.C.).