Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

SF Berkovic; JF Staropoli; S Carpenter; KL Oliver; S Kmoch; GW Anderson; JA Damiano; MS Hildebrand; KB Sims; SL Cotman; M Bahlo; KR Smith; M Cadieux-Dion; P Cossette; I Jedličková; A Přistoupilová; SE Mole

Journal article

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

SF Berkovic, JF Staropoli, S Carpenter, KL Oliver, S Kmoch, GW Anderson, JA Damiano, MS Hildebrand, KB Sims, SL Cotman, M Bahlo, KR Smith, M Cadieux-Dion, P Cossette, I Jedličková, A Přistoupilová, SE Mole

Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2016

DOI: 10.1212/WNL.0000000000002943

Abstract

Objective: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery. Methods: Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring centers as ANCL. Clinical and neuropathologic experts within the Consortium established diagnostic criteria for ANCL based on the literature to assess each case. A panel of 3 neuropathologists independently reviewed source pathologic data. Cases were given a final clinicopathologic classification of definite ANCL, probable ANCL, possible ANCL, or not ANCL. Results: Of the 47 cases, only 16 fulfilled the..

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University of Melbourne Researchers

Sam Berkovic Author

Karen L Oliver Author

Michael Hildebrand Author

Melanie Bahlo Author

Related Projects (2)

EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS.

The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discove..

EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS.

The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discove..

Grants

Awarded by National Institutes of Health

Funding Acknowledgements

S.F.B. was supported by a National Health and Medical Research Council Program Grant (ID: 628952). S.K., I.J., and A.P. are funded by Charles University institutional programs PRVOUK-P24/LF1/3, UNCE 204011, and SVV2016/260148 and by the project LQ1604 NPU II from the Ministry of Education of the Czech Republic. This work was specifically supported by grant 15-28208A from the Ministry of Health of the Czech Republic and GA UK No. 269615 (I.J.) and No. 1402213 (A.P.). Instrumental support for exome and gene panel sequencing was provided by the Genomic facility in Motol University Hospital in Prague (OPPK.CZ.2.16/3.100/24022). S.E.M. received specific funding towards the work of the Rare NCL Gene Consortium and Kufs disease from the USA Batten Disease Support and Research Association. S.L.C. is funded by the National Institutes of Health: National Institute of Neurologic Disorders & Stroke (R01NS073813). M.C.-D. is supported by the Fonds de Recherche du Quebec-Sante (FRQS).