About: Gerstmann-Straussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature

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About: Gerstmann-Straussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	GerstmannStrausslerScheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes. A pathogenic P102L mutation in the prion gene was detected. Our case differed from classical GerstmannStrausslerScheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial CreutzfeldtJakob disease. GerstmannStrausslerScheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes. A pathogenic P102L mutation in the prion gene was detected. Our case differed from classical GerstmannStrausslerScheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial CreutzfeldtJakob disease. (en)
Title	Gerstmann-Straussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature Gerstmann-Straussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature (en)
skos:prefLabel	Gerstmann-Straussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature Gerstmann-Straussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature (en)
skos:notation	RIV/00064190:_____/13:#0000599!RIV14-MZ0-00064190
http://linked.open...avai/predkladatel	Fakultní Thomayerova nemocnice s poliklinikou
http://linked.open...avai/riv/aktivita	I N P Z
http://linked.open...avai/riv/aktivity	I, N, P(NS10335), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Fiala, Jindřich Rusina, Robert Matěj, Radoslav Koukolík, František Matějčková, Milada Nováková, Jana
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Thomayerova nemocnice
http://linked.open...dnocenehoVysledku	76585
http://linked.open...ai/riv/idVysledku	RIV/00064190:_____/13:#0000599
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Gerstmann-Straussler-Scheinker syndrome; Prion gene mutation; Prion; Dementia (en)
http://linked.open.../riv/klicoveSlovo	Prion Dementia Gerstmann-Straussler-Scheinker syndrome Prion gene mutation
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[0F6B9F2B1E54]
http://linked.open...i/riv/nazevZdroje	NEUROCASE
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Detection of prion protein in blood and cerebral spinal fluid of patients with Creutzfeldt-Jakob disease
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	19
http://linked.open...iv/tvurceVysledku	Fiala, Jindřich Nováková, Jana Rusina, Robert Matěj, Radoslav Matějčková, Milada Koukolík, František
http://linked.open...ain/vavai/riv/wos	000313941100006
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	1355-4794
number of pages	12 (xsd:int)
http://bibframe.org/vocab/doi	10.1080/13554794.2011.654215

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