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Statements

Subject Item
n2:RIV%2F00064190%3A_____%2F13%3A%230000599%21RIV14-MZ0-00064190
rdf:type
n6:Vysledek skos:Concept
dcterms: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.
dcterms: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
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
skos:notation
RIV/00064190:_____/13:#0000599!RIV14-MZ0-00064190
n6:predkladatel
n7:ico%3A00064190
n3:aktivita
n5:Z n5:I n5:N n5:P
n3:aktivity
I, N, P(NS10335), Z(MSM0021620806)
n3:cisloPeriodika
1
n3:dodaniDat
n11:2014
n3:domaciTvurceVysledku
n8:1212656 n8:5438942 n8:1468928 n8:5369770 n8:8893896 n8:4091507
n3:druhVysledku
n20:J
n3:duvernostUdaju
n9:S
n3:entitaPredkladatele
n16:predkladatel
n3:idSjednocenehoVysledku
76585
n3:idVysledku
RIV/00064190:_____/13:#0000599
n3:jazykVysledku
n18:eng
n3:klicovaSlova
Gerstmann-Straussler-Scheinker syndrome; Prion gene mutation; Prion; Dementia
n3:klicoveSlovo
n4:Prion%20gene%20mutation n4:Prion n4:Dementia n4:Gerstmann-Straussler-Scheinker%20syndrome
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[0F6B9F2B1E54]
n3:nazevZdroje
NEUROCASE
n3:obor
n19:FH
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
8
n3:projekt
n17:NS10335
n3:rokUplatneniVysledku
n11:2013
n3:svazekPeriodika
19
n3:tvurceVysledku
Matějčková, Milada Nováková, Jana Matěj, Radoslav Rusina, Robert Fiala, Jindřich Koukolík, František
n3:wos
000313941100006
n3:zamer
n15:MSM0021620806
s:issn
1355-4794
s:numberOfPages
12
n14:doi
10.1080/13554794.2011.654215