Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F12%3A%230000321" target="_blank" >RIV/00064190:_____/12:#0000321 - isvavai.cz</a>
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>
Alternative languages
Result language
angličtina
Original language name
Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.
Original language description
Gerstmann-Sträussler-Scheinker 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 earlypersonality 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 Gerstmann-Sträussler-Scheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial Creutzfeldt-Jakob disease.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Result continuities
Project
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Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neurocase: The Neural Basis of Cognition
ISSN
1465-3656
e-ISSN
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Volume of the periodical
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Issue of the periodical within the volume
12.4.2012
Country of publishing house
US - UNITED STATES
Number of pages
13
Pages from-to
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UT code for WoS article
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EID of the result in the Scopus database
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