Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023884%3A_____%2F19%3A00008226" target="_blank" >RIV/00023884:_____/19:00008226 - isvavai.cz</a>
Alternative codes found
RIV/68407700:21340/19:00335993 RIV/00216224:14110/19:00111745 RIV/00216208:11110/19:10395907 RIV/00216208:11120/19:43918502 and 6 more
Result on the web
<a href="https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.25579" target="_blank" >https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.25579</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ana.25579" target="_blank" >10.1002/ana.25579</a>
Alternative languages
Result language
angličtina
Original language name
Clinical Variability in P102L Gerstmann-Straussler-Scheinker Syndrome
Original language description
Gerstmann-Straussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech patients and 87 published cases suggests the existence of 4 clinical phenotypes (typical GSS, GSS with areflexia and paresthesia, pure dementia GSS, and Creutzfeldt-Jakob disease-like GSS); GSS may be more common than previously estimated. In making a clinical diagnosis or progression estimates of GSS, magnetic resonance imaging and real-time quaking-induced conversion may be helpful, but the results should be evaluated with respect to the overall clinical context. ANN NEUROL 2019;86:643-652.
Czech name
—
Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30210 - Clinical neurology
Result continuities
Project
<a href="/en/project/NV18-04-00179" target="_blank" >NV18-04-00179: New possibilities of intravital diagnostics of prion diseases from peripheral tissues and cerebrospinal fluid.</a><br>
Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Annals Of Neurology
ISSN
0364-5134
e-ISSN
—
Volume of the periodical
86
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
643-652
UT code for WoS article
000490325800002
EID of the result in the Scopus database
2-s2.0-85071749084