Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/17053
Full metadata record
DC FieldValueLanguage
dc.contributor.authorvan den Ameele, Jelle-
dc.contributor.authorJedlickova, Ivana-
dc.contributor.authorPristoupilova, Anna-
dc.contributor.authorSieben, Anne-
dc.contributor.authorVan Mossevelde, Sara-
dc.contributor.authorCeuterick-de Groote, Chantal-
dc.contributor.authorHůlková, Helena-
dc.contributor.authorMatej, Radoslav-
dc.contributor.authorMeurs, Alfred-
dc.contributor.authorVan Broeckhoven, Christine-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorSantens, Patrick-
dc.contributor.authorKmoch, Stanislav-
dc.contributor.authorDermaut, Bart-
dc.date2018-01-19-
dc.date.accessioned2018-01-23T00:33:45Z-
dc.date.available2018-01-23T00:33:45Z-
dc.date.issued2018-
dc.identifier.citationNeurology 2018; 90(8): e658-e663-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/17053-
dc.description.abstractThe 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.-
dc.language.isoeng-
dc.titleTeenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.-
dc.typeJournal Article-
dc.identifier.journaltitleNeurology-
dc.identifier.affiliationDepartment of Neurology and Center for Medical Genetics, Ghent University Hospital, Belgium-
dc.identifier.affiliationInstitute for Inherited Metabolic Disorders, Prague, Czech Republic-
dc.identifier.affiliationFirst Faculty of Medicine, Charles University in Prague, Prague, Czech Republic-
dc.identifier.affiliationNeurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, University of Antwerp, Belgium-
dc.identifier.affiliationNeuropathology and Laboratory of Neurochemistry and Behavior, University of Antwerp, Belgium-
dc.identifier.affiliationLaboratory of Neurogenetics (S.V.M., C.V.B.),-
dc.identifier.affiliationLaboratory of Neuromuscular Pathology and Translational Neurosciences, Institute Born-Bunge, University of Antwerp, Belgium-
dc.identifier.affiliationInstitute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic-
dc.identifier.affiliationDepartment of Pathology and Molecular Medicine, National Reference Laboratory for Diagnostics of Human Prion Diseases, Thomayer Hospital, Prague, Czech Republic-
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia-
dc.identifier.affiliationInserm U1167, Laboratoire d'Excellence Distalz, Institut Pasteur de Lille, Longevity Research Center, Université de Lille, France-
dc.identifier.affiliationDepartment of Clinical Neurosciences and WT/CRUK Gurdon Institute, University of Cambridge, UK-
dc.identifier.doi10.1212/WNL.0000000000004999-
dc.identifier.orcid0000-0003-4580-841X-
dc.identifier.pubmedid29352102-
dc.type.austinJournal Article-
local.name.researcherBerkovic, Samuel F
item.languageiso639-1en-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
Appears in Collections:Journal articles
Show simple item record

Page view(s)

52
checked on Dec 25, 2024

Google ScholarTM

Check


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.