Journal article
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features
Samuel F Berkovic, Karen L Oliver, Laura Canafoglia, Penina Krieger, John A Damiano, Michael S Hildebrand, Michela Morbin, Danya F Vears, Vito Sofia, Loretta Giuliano, Barbara Garavaglia, Alessandro Simonati, Filippo M Santorelli, Antonio Gambardella, Angelo Labate, Vincenzo Belcastro, Barbara Castellotti, Cigdem Ozkara, Adam Zeman, Julia Rankin Show all
BRAIN | OXFORD UNIV PRESS | Published : 2019
DOI: 10.1093/brain/awy297
Abstract
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accumulation of lipofuscin can be challenging. Mutation of CLN6 has emerged as the most important cause of recessive Kufs disease but, remarkably, is also responsible for variant late infantile ceroid lipofuscinosis. Here we provide a detailed description of Kufs disease due to CLN6 pathogenic variants. We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families. Mean age of onset was 28 years (range 12-51) with bimod..
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Awarded by National Health and Medical Research Council Program Grant
Awarded by European Union
Awarded by MRC
Funding Acknowledgements
S.F.B. was supported by National Health and Medical Research Council Program Grant (ID: 1091593); S.M. received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 66691 and MRC funding to the MRC LMCB University Unit at UCL, award code MC_U12266B.