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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F13%3A%230000473" target="_blank" >RIV/00064190:_____/13:#0000473 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/13:10189718 RIV/00064190:_____/13:#0000599

Result on the web

<a href="http://dx.doi.org/10.1080/13554794.2011.654215" target="_blank" >http://dx.doi.org/10.1080/13554794.2011.654215</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1080/13554794.2011.654215" target="_blank" >10.1080/13554794.2011.654215</a>

Result language

angličtina

Original language name

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

Original language 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.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NS10335" target="_blank" >NS10335: Detection of prion protein in blood and cerebral spinal fluid of patients with Creutzfeldt-Jakob disease</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

NEUROCASE

ISSN

1355-4794

e-ISSN

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Volume of the periodical

19

Issue of the periodical within the volume

1

Country of publishing house

GB - UNITED KINGDOM

Number of pages

13

Pages from-to

41-53

UT code for WoS article

000313941100006

EID of the result in the Scopus database

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