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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064190:_____/12:#0000307 RIV/00216208:11120/12:43902106

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30210 - Clinical neurology

Projekt

—

Návaznosti

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Rok uplatnění

2012

Kód důvěrnosti údajů

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

Název periodika

Movement Disorders

ISSN

0885-3185

e-ISSN

—

Svazek periodika

27

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

4

Strana od-do

476-479

Kód UT WoS článku

000302469000044

EID výsledku v databázi Scopus

2-s2.0-84859341110