Evidence map›Paper›PMID 40877992›Full record

ArticleNeurological research and practice2025

Optical coherence tomography - A possible biomarker in early huntington's disease.

Clancy Cerejo, Elias Mandler, Federico Carbone, Gabriel Bsteh, Barbara Teuchner, Katarína Schwarzová, Marina Peball, Atbin Djamshidian, Klaus Seppi, Beatrice Heim

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Article in Neurological research and practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Temporal Muscle Thickness Correlates with Functional Decline in Huntington's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025
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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Clancy Cerejo *Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.
Elias Mandler *Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.
Federico CarboneDepartment of Neurology, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.
Gabriel BstehDepartment of Neurology, Medical University of Vienna, Vienna, Austria.
Barbara TeuchnerDepartment of Ophthalmology and Optometry, Medical University of Innsbruck, Innsbruck, Austria.
Katarína SchwarzováDepartment of Neurology, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.
Marina PeballDepartment of Neurology, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.
Atbin DjamshidianDepartment of Neurology, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.
Klaus SeppiDepartment of Neurology, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.
Beatrice HeimDepartment of Neurology, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria. beatrice.heim@i-med.ac.at.ORCID http://orcid.org/0000-0002-6749-3044

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo assess the role of spectral domain Optical Coherence Tomography (OCT) as a biomarker in Huntington's disease (HD).

methodsThis cross-sectional study compared spectral domain OCT data, cognitive function, and olfactory function in HD patients and healthy controls (HC). HD patients were classified into Stage1 and Stage2 based on motor symptoms and functional capacity.

resultsWe recruited a total of 68 participants including 39HD patients (22 stage1, 17 stage2) and 29 age-matched HC. There were no significant differences in age and gender between the groups. Stage2 HD patients showed worse motor function (UHDRS-TMS 28.44 ± 18.13 vs. 13.74 ± 8.78, p = 0.002), functional capacity (UHDRS-TFC 8.13 ± 2.03 vs. 12.44 ± 0.99, p < 0.001), and lower scores on MMSE (27.36 ± 1.64 vs. 28.73 ± 1.74, p = 0.005 vs. 29.45 ± 0.91, p < 0.001) compared to stage1 HD patients and HC, respectively. Both stage1 and stage2 HD groups displayed significantly reduced macular retinal nerve fibre layer thickness (mRNFL) (33.45 ± 4.70, 31.90 ± 3.47 vs. 38.45 ± 5.00; p < 0.001) and ganglion cell-inner plexiform layer thickness (GCIPL) (71.63 ± 6.38, p = 0.007; 60.42 ± 4.67, p < 0.001 vs. 77.03 ± 8.40) as compared to HC. The retinal OCT parameters mRNFL and GCIPL correlated moderately with PIN

conclusionsHD patients exhibit significantly thinner retinal ganglion cell inner plexiform layer and macular retinal nerve fibre layer compared to HC, even in the early phase of the disease. These findings suggest that OCT may serve as a valuable biomarker to monitor neurodegeneration at an early disease stage.

Indexed as

BiomarkersHuntington’s diseaseOlfactory dysfunctionOptical coherence tomography

Identifiers

PMID40877992
PMCPMC12395900

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