SEARCHNARRATIVE_REVIEWophthalmology, neurology

narrative_review·ophthalmology, neurology, neuro-ophthalmology, pediatric ophthalmology, biomedical research·PMC10883068

Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features

Frontiers in Integrative Neuroscience · 6 authors, 5 centres

AI SUMMARY

FIDELITY 100%

This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.

AGENT 01 · STRUCTURED SUMMARY

TRACE TO SOURCE

“

TL;DR

The authors propose that these ocular features can help group ARCAs according to their underlying genetic pathway: mitochondrial metabolism, DNA repair, or lipid metabolism.

Full summary

450 CHARS

The authors propose a diagnostic classification framework where distinct patterns of visual system dysfunction correspond to the three common genetic pathways in ARCAs: mitochondrial metabolism, DNA repair/genome stability, and complex lipid metabolism. The review highlights the potential for these quantitative ocular markers, especially with advances in AI and digital sensors, to serve as biomarkers for disease assessment and in clinical trials.

STUDY TYPE

narrative_review

SPECIALTY

ophthalmology

SUMMARISED BY

AI pipeline

FIDELITY CHECK

100% · A

ORIGINAL PAPER

PMC10883068

Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features

Frontiers in Integrative Neuroscience

READ THE FULL PAPER

ABSTRACT

Abstract Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts, often accompanied by damage of other neurological or extra-neurological systems. Due to the overlap of clinical presentation among ARCAs and the variety of hereditary, acquired, and reversible etiologies that can determine cerebellar dysfunction, the differential diagnosis is challenging, but also urgent considering the ongoing development of promising target therapies. The examination of afferent and efferent visual system may provide neurophysiological and structural information related to cerebellar dysfunction and neurodegeneration thus allowing a possible diagnostic classification approach according to ocular features. While optic coherence tomography (OCT) is applied for the parametrization of the optic nerve and macular area, the eye movements analysis relies on a wide range of eye-tracker devices and the application of machine-learning techniques. We discuss the results of clinical and eye-tracking oculomotor examination, the OCT findings and some advancing of computer science in ARCAs thus providing evidence sustaining the identification of robust eye parameters as possible markers of ARCAs. Keywords: autosomal recessive cerebellar ataxias, optical coherence tomography, eye-tracking, eye movements, artificial intelligence

CITATION EXPORT

Diego Lopergolo, Francesca Rosini, Elena Pretegiani et al.. Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features. Frontiers in Integrative Neuroscience. (2024). https://doi.org/10.3389/fnint.2023.1275794

AUTHORS

6 · 5 CENTRES

Diego Lopergolo, Francesca Rosini, Elena Pretegiani, Alessia Bargagli, Valeria Serchi, Alessandra Rufa

1Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy
2UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy
3UOC Stroke Unit, Department of Emergenza-Urgenza, Azienda Ospedaliero-Universitaria Senese, Siena, Italy
4Unit of Neurology, Centre Hospitalier Universitaire Vaudoise Lausanne, Unit of Neurology and Cognitive Neurorehabilitation, Universitary Hospital of Fribourg, Fribourg, Switzerland
5Evalab-Neurosense, Department of Medicine Surgery and Neuroscience, University of Siena, Siena, Italy