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

Result code in 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>

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30210 - Clinical neurology

Project

<a href="/en/project/NU23-04-00173" target="_blank" >NU23-04-00173: Utilization of RT-QuIC assay for improvement of diagnostics of neurodegenerative diseases: Prospective and retrospective studies</a><br>

Continuities

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

Publication year

2026

Confidentiality

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

Name of the periodical

REVUE NEUROLOGIQUE

ISSN

0035-3787

e-ISSN

2213-0004

Volume of the periodical

182

Issue of the periodical within the volume

1-2

Country of publishing house

FR - FRANCE

Number of pages

9

Pages from-to

97-105

UT code for WoS article

001687277500001

EID of the result in the Scopus database

2-s2.0-105026247408