Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023884%3A_____%2F12%3A00007683" target="_blank" >RIV/00023884:_____/12:00007683 - isvavai.cz</a>
Alternative codes found
RIV/00064190:_____/12:#0000307 RIV/00216208:11120/12:43902106
Result on the web
<a href="http://dx.doi.org/10.1002/mds.24002" target="_blank" >http://dx.doi.org/10.1002/mds.24002</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/mds.24002" target="_blank" >10.1002/mds.24002</a>
Alternative languages
Result language
angličtina
Original language name
Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy
Original language description
Human prion diseases, comprising genetic Creutzfeldt–Jakob disease (gCJD), Gerstmann‐Sträussler‐Scheinker disease, and fatal familial insomnia, are transmissible fatal diseases, either sporadic or genetic (familial) or associated with prion protein gene (PRNP) mutations. Clinical presentations in gCJD may be similar or indistinguishable from sporadic CJD (sCJD), although some mutations are associated with distinct symptoms such as chorea/dystonia, parkinsonism or insomnia, and polyneuropathy.1 In addition to the mutation, the genetic prion disease phenotype is influenced by the PRNP polymorphism at codon 129. Progressive supranuclear palsy (PSP), characterized by early gait disturbances, falls, axial rigidity, vertical gaze palsy, and subcortical dementia,2 is a 4R tauopathy. A clinical presentation similar to PSP has been described in various neurodegenerative diseases including TDP‐43 proteinopathies3 and sCJD,4 and supranuclear gaze palsy has also been reported in gCJD associated with E200K mutation.1, 5 Here we report a novel phenotype associated with the R208H PRNP mutation extending the spectrum of disorders resembling progressive supranuclear palsy.
Czech name
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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
—
Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Movement Disorders
ISSN
0885-3185
e-ISSN
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Volume of the periodical
27
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
4
Pages from-to
476-479
UT code for WoS article
000302469000044
EID of the result in the Scopus database
2-s2.0-84859341110