About: Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy

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About: Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Introduction: We report a patient with genetic Creutzfeldt-Jakob disease showing the rare R208H mutation in the prion protein gene. Case description: Over a few months, a 62-year-old woman progressively developed frontal-type dementia with reduced verbal fluency, perseverative behavior, stereotypies and apathy, together with increasing akinesia, rigidity, and marked oculomotor abnormalities suggesting progressive supranuclear palsy. Cerebellar symptoms, myoclonus and generalized triphasic EEG patterns appeared only one year after the first complaints. Cerebrospinal fluid analysis revealed positive 14-3-3 protein and highly increased total tau level. Results: Neuropathological and immunohistochemical post-mortem examination confirmed the definite diagnosis of Creutzfeldt-Jakob disease. Genetic analysis demonstrated R208H mutation with valine homozygosity at codon 129 of prion protein gene. Conclusion: On one hand our observation widens the spectrum of clinical presentations of genetic prion diseases, and on the other hand supports the notion that a progressive supranuclear palsy-like clinical presentation can be associated with various neurodegenerative disorders. Introduction: We report a patient with genetic Creutzfeldt-Jakob disease showing the rare R208H mutation in the prion protein gene. Case description: Over a few months, a 62-year-old woman progressively developed frontal-type dementia with reduced verbal fluency, perseverative behavior, stereotypies and apathy, together with increasing akinesia, rigidity, and marked oculomotor abnormalities suggesting progressive supranuclear palsy. Cerebellar symptoms, myoclonus and generalized triphasic EEG patterns appeared only one year after the first complaints. Cerebrospinal fluid analysis revealed positive 14-3-3 protein and highly increased total tau level. Results: Neuropathological and immunohistochemical post-mortem examination confirmed the definite diagnosis of Creutzfeldt-Jakob disease. Genetic analysis demonstrated R208H mutation with valine homozygosity at codon 129 of prion protein gene. Conclusion: On one hand our observation widens the spectrum of clinical presentations of genetic prion diseases, and on the other hand supports the notion that a progressive supranuclear palsy-like clinical presentation can be associated with various neurodegenerative disorders. (en)
Title	Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy (en)
skos:prefLabel	Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy (en)
skos:notation	RIV/00064190:_____/12:#0000307!RIV13-MZ0-00064190
http://linked.open...avai/predkladatel	Fakultní Thomayerova nemocnice s poliklinikou
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(GP309/09/P204), P(NT12094), Z(MSM0021620816)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Rusina, Robert Matěj, Radoslav Keller, Otakar Johanidesová, Silvie 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	137896
http://linked.open...ai/riv/idVysledku	RIV/00064190:_____/12:#0000307
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	CLINICAL DIAGNOSTIC-CRITERIA; progressive supranuclear palsy; prion diseases; R208H mutation (en)
http://linked.open.../riv/klicoveSlovo	progressive supranuclear palsy CLINICAL DIAGNOSTIC-CRITERIA R208H mutation prion diseases
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[B32EE4AB1FD9]
http://linked.open...i/riv/nazevZdroje	MOVEMENT DISORDERS
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...vavai/riv/projekt	The role of PAR-2 in neurodegenerative diseases Multidisciplinary approach in the diagnosis of frontotemporal lobar degenerations and tauopathies: new insights into pathogenetic mechanisms
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	27
http://linked.open...iv/tvurceVysledku	Nováková, Jana Rusina, Robert Matěj, Radoslav Keller, Otakar Matějčková, Milada Johanidesová, Silvie
http://linked.open...ain/vavai/riv/wos	000302469000044
http://linked.open...n/vavai/riv/zamer	Název: Patofyziologie neuropsychiatrických onemocnění a její klinické aplikace
issn	0885-3185
number of pages	4 (xsd:int)
http://bibframe.org/vocab/doi	10.1002/mds.24002
is http://linked.open...avai/riv/vysledek of	Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy

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