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Title: Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.
Austin Authors: van den Ameele, Jelle;Jedlickova, Ivana;Pristoupilova, Anna;Sieben, Anne;Van Mossevelde, Sara;Ceuterick-de Groote, Chantal;Hůlková, Helena;Matej, Radoslav;Meurs, Alfred;Van Broeckhoven, Christine;Berkovic, Samuel F ;Santens, Patrick;Kmoch, Stanislav;Dermaut, Bart
Affiliation: Department of Neurology and Center for Medical Genetics, Ghent University Hospital, Belgium
Institute for Inherited Metabolic Disorders, Prague, Czech Republic
First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, University of Antwerp, Belgium
Neuropathology and Laboratory of Neurochemistry and Behavior, University of Antwerp, Belgium
Laboratory of Neurogenetics (S.V.M., C.V.B.),
Laboratory of Neuromuscular Pathology and Translational Neurosciences, Institute Born-Bunge, University of Antwerp, Belgium
Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
Department of Pathology and Molecular Medicine, National Reference Laboratory for Diagnostics of Human Prion Diseases, Thomayer Hospital, Prague, Czech Republic
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Inserm U1167, Laboratoire d'Excellence Distalz, Institut Pasteur de Lille, Longevity Research Center, Université de Lille, France
Department of Clinical Neurosciences and WT/CRUK Gurdon Institute, University of Cambridge, UK
Issue Date: 2018
Date: 2018-01-19
Publication information: Neurology 2018; 90(8): e658-e663
Abstract: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are emerging as an important causal factor in several adult-onset neurodegenerative disorders, in particular frontotemporal lobar degeneration and amyotrophic lateral sclerosis. An association with PME has not been reported previously. To identify the causative mutation in a Belgian family where the proband had genetically unexplained PME. We report a 33-year old woman who had epilepsy since the age of 15 and then developed progressive cognitive deterioration and multifocal myoclonus at the age of 18. The family history suggested autosomal dominant inheritance of psychiatric disorders, epilepsy, and dementia. Thorough workup for PME including whole exome sequencing did not reveal an underlying cause, but a C9orf72 repeat expansion was found in our patient and affected relatives. Brain biopsy confirmed the presence of characteristic p62-positive neuronal cytoplasmic inclusions. C9orf72 mutation analysis should be considered in patients with PME and psychiatric disorders or dementia, even when the onset is in late childhood or adolescence.
DOI: 10.1212/WNL.0000000000004999
ORCID: 0000-0003-4580-841X
Journal: Neurology
PubMed URL: 29352102
Type: Journal Article
Appears in Collections:Journal articles

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