Evidence map›Paper›PMID 42265353›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2026

Oculomotor dysfunction with unremarkable neuroimaging: a diagnostic clue to Gerstmann-Sträussler-Scheinker syndrome.

Xia Ling, Yuexia Wu, Zhiying Xie, Yang Wang, Jianhua Li, Xu Yang, Zhaoxia Wang, Qing Peng

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In one paragraph

Article in Documenta ophthalmologica. Advances in ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Xia Ling *Department of Neurology, Peking University First Hospital, No. 8 Xishiku St., Xicheng District, Beijing, 100034, China.
Yuexia Wu *Department of Neurology, The First Hospital of Fangshan District, Beijing, 102400, China.
Zhiying XieDepartment of Neurology, Peking University First Hospital, No. 8 Xishiku St., Xicheng District, Beijing, 100034, China.
Yang WangDepartment of Neurology, The First Hospital of Hebei Medical University, Shijiazhuang, 050032, China.
Jianhua LiDepartment of Neurology, The First Hospital of Fangshan District, Beijing, 102400, China.
Xu YangDepartment of Neurology, Peking University First Hospital, No. 8 Xishiku St., Xicheng District, Beijing, 100034, China.
Zhaoxia WangDepartment of Neurology, Peking University First Hospital, No. 8 Xishiku St., Xicheng District, Beijing, 100034, China.
Qing PengDepartment of Neurology, Peking University First Hospital, No. 8 Xishiku St., Xicheng District, Beijing, 100034, China. qing054@sina.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGerstmann-Sträussler-Scheinker syndrome (GSS) is an extremely rare genetic prion disease caused by pathogenic mutations in the prion protein gene (PRNP). Further reports and thorough evaluation are needed to identify and manage this disease.

methodWe report a rare case of GSS in a 56-year-old woman who presented with progressive gait instability, dizziness, and speech difficulties.

resultsInitial genetic screening for 12 common spinocerebellar ataxia (SCA) subtypes via PCR-based fragment analysis was negative. However, detailed video-oculography (VOG) revealed key ocular motor abnormalities, including spontaneous upbeat nystagmus with a decreasing slow phase velocity, macro-square wave jerks, horizontal gaze-evoked nystagmus, saccadic hypermetria, and decreased optokinetic nystagmus. Given the family history of gait instability and these specific findings, whole-exome sequencing (WES) was performed, which identified a heterozygous p.Pro102Leu (P102L) mutation in the PRNP gene. Neuroimaging was unremarkable, highlighting the clinical-radiological dissociation.

conclusionsThis case demonstrates that a distinctive oculomotor signature can serve as a critical phenotypic lead for GSS, particularly justifying expanded genetic evaluation when conventional SCA panels and neuroimaging are non-diagnostic.

Indexed as

Eye MovementsGerstmann-Straussler-Scheinker DiseaseMutationNeuroimagingOcular Motility DisordersOculomotor MusclesFemaleHumansMiddle AgedPrion ProteinsPrion ProteinsCase reportGerstmann-Sträussler-Scheinker syndromeOcular motor abnormalitiesSpontaneous upbeat nystagmus

Identifiers

PMID42265353

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.