Gerstmann-Straussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F26%3A10001462" target="_blank" >RIV/00064190:_____/26:10001462 - isvavai.cz</a>

Výsledek na webu

<a href="https://doi.org/10.1016/j.neurol.2025.11.007" target="_blank" >https://doi.org/10.1016/j.neurol.2025.11.007</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.neurol.2025.11.007" target="_blank" >10.1016/j.neurol.2025.11.007</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Gerstmann-Straussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene

Popis výsledku v původním jazyce

Gerstmann-Straussler-Scheinker syndrome is an extremely rare hereditary human prion disease caused by distinct mutations in the prion protein-encoding gene and is frequently associated with a positive family history. The disease typically presents with progressive cerebellar symptoms such as gaze apraxia with limb ataxia and axial ataxia; thus, the diagnostic process is often challenging due to nonspecific clinical presentation. We present a case of a 73-year-old patient with no family history of dementia and cerebellar symptomatology during the course of rapidly progressing dementia. Owing to the clinical suspicion of prion disease, antemortem analysis of cerebrospinal fluid using a real-time quaking-induced conversion (RT-QuIC) assay was performed, with positive results. Postmortem histopathological examination confirmed a familiar form of human prion disease with concomitant asymptomatic tauopathy. An additional finding was a novel 6 octapeptide repeat insertion mutation in the prion gene. Familiar cases with an increasing number of repeated insertions seem to be associated with a longer overall disease course, milder clinical deterioration and often false-negative RT-QuIC results. The performance of RT-QuIC in inherited prion diseases may vary. Our case, involving a 6 octapeptide repeat insertion mutation, is particularly noteworthy due to the rapidly progressive clinical course and positive RT-QuIC results in both antemortem and postmortem tissue analyses. (c) 2025 Elsevier Masson SAS. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

Název v anglickém jazyce

Gerstmann-Straussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene

Popis výsledku anglicky

Gerstmann-Straussler-Scheinker syndrome is an extremely rare hereditary human prion disease caused by distinct mutations in the prion protein-encoding gene and is frequently associated with a positive family history. The disease typically presents with progressive cerebellar symptoms such as gaze apraxia with limb ataxia and axial ataxia; thus, the diagnostic process is often challenging due to nonspecific clinical presentation. We present a case of a 73-year-old patient with no family history of dementia and cerebellar symptomatology during the course of rapidly progressing dementia. Owing to the clinical suspicion of prion disease, antemortem analysis of cerebrospinal fluid using a real-time quaking-induced conversion (RT-QuIC) assay was performed, with positive results. Postmortem histopathological examination confirmed a familiar form of human prion disease with concomitant asymptomatic tauopathy. An additional finding was a novel 6 octapeptide repeat insertion mutation in the prion gene. Familiar cases with an increasing number of repeated insertions seem to be associated with a longer overall disease course, milder clinical deterioration and often false-negative RT-QuIC results. The performance of RT-QuIC in inherited prion diseases may vary. Our case, involving a 6 octapeptide repeat insertion mutation, is particularly noteworthy due to the rapidly progressive clinical course and positive RT-QuIC results in both antemortem and postmortem tissue analyses. (c) 2025 Elsevier Masson SAS. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30210 - Clinical neurology

Projekt

<a href="/cs/project/NU23-04-00173" target="_blank" >NU23-04-00173: Využití metody RT-QuIC pro zpřesnění diagnostiky neurodegenerativních onemocnění: Prospektivní a retrospektivní studie</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2026

Kód důvěrnosti údajů

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

Název periodika

REVUE NEUROLOGIQUE

ISSN

0035-3787

e-ISSN

2213-0004

Svazek periodika

182

Číslo periodika v rámci svazku

1-2

Stát vydavatele periodika

FR - Francouzská republika

Počet stran výsledku

9

Strana od-do

97-105

Kód UT WoS článku

001687277500001

EID výsledku v databázi Scopus

2-s2.0-105026247408