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Title: Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Austin Authors: Berkovic, Samuel F ;Staropoli, John F;Carpenter, Stirling;Oliver, Karen L;Kmoch, Stanislav;Anderson, Glenn W;Damiano, John A;Hildebrand, Michael S ;Sims, Katherine B;Cotman, Susan L;Bahlo, Melanie;Smith, Katherine R;Cadieux-Dion, Maxime;Cossette, Patrick;Jedličková, Ivana;Přistoupilová, Anna;Mole, Sara E
Affiliation: Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
Department of Pathology, Centro Hospitalar São João, Porto, Portugal
Centre de Recherche du Centre Hospitalier de l'Université de Montréal, University of Montreal, Canada
MRC Laboratory for Cell Biology, Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK
Center for Human Genetic Research and Department of Neurology, Harvard Medical School, Massachusetts General Hospital, Boston
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, University of Melbourne, Australia
Departments of Mathematics and Statistics and Medical Biology, University of Melbourne, Australia
Biogen, Inc., Cambridge, MA
Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague
General University Hospital in Prague (S.K.), Czech Republic
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Issue Date: 9-Aug-2016
Date: 2016
Publication information: Neurology 2016; 87(6): 579-84
Abstract: 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. 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. Of the 47 cases, only 16 fulfilled the Consortium's criteria of ANCL (5 definite, 2 probable, 9 possible). Definitive alternate diagnoses were made in 10, including Huntington disease, early-onset Alzheimer disease, Niemann-Pick disease, neuroserpinopathy, prion disease, and neurodegeneration with brain iron accumulation. Six cases had features suggesting an alternate diagnosis, but no specific condition was identified; in 15, the data were inadequate for classification. Misinterpretation of normal lipofuscin as abnormal storage material was the commonest cause of misdiagnosis. Diagnosis of ANCL remains challenging; expert pathologic analysis and recent molecular genetic advances revealed misdiagnoses in >1/3 of cases. We now have a refined group of cases that will facilitate identification of new causative genes.
DOI: 10.1212/WNL.0000000000002943
ORCID: 0000-0003-4580-841X
Journal: Neurology
PubMed URL: 27412140
Type: Journal Article
Appears in Collections:Journal articles

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