{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T03:45:33Z","timestamp":1792899933779,"version":"4.5.0"},"reference-count":149,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T00:00:00Z","timestamp":1707264000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Integr. Neurosci."],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3389\/fnint.2023.1275794","type":"journal-article","created":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T05:30:11Z","timestamp":1707283811000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features"],"prefix":"10.3389","volume":"17","author":[{"given":"Diego","family":"Lopergolo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Rosini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pretegiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Bargagli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Serchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Rufa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,2,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10048-009-0196-y","article-title":"Epidemiological, clinical, Paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, eastern France: implications for clinical management","volume":"11","author":"Anheim","year":"2010","journal-title":"Neurogenetics"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"2688","DOI":"10.1093\/brain\/awp211","article-title":"Ataxia with Oculomotor apraxia type 2: clinical, biological and genotype\/phenotype correlation study of a cohort of 90 patients","volume":"132","author":"Anheim","year":"2009","journal-title":"Brain"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1080\/02713683.2019.1567792","article-title":"Optical coherence tomography of the retinal ganglion cell complex in Leber\u2019s hereditary optic neuropathy and dominant optic atrophy","volume":"44","author":"Asanad","year":"2019","journal-title":"Curr. 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Neurol. Sci."},{"key":"ref12","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1186\/s12943-019-1100-5","article-title":"MRE11-RAD50-NBS1 complex alterations and DNA damage response: implications for cancer treatment","volume":"18","author":"Bian","year":"2019","journal-title":"Mol. Cancer"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1212\/WNL.0000000000004868","article-title":"Ophthalmoscopy in the 21st century","volume":"90","author":"Biousse","year":"2018","journal-title":"Neurology"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"1355","DOI":"10.1016\/S1474-4422(16)30237-X","article-title":"Diagnosis and clinical features of common optic neuropathies","volume":"15","author":"Biousse","year":"2016","journal-title":"Lancet Neurol"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1002\/ana.25839","article-title":"Optic disc classification by deep learning versus expert Neuro-ophthalmologists","volume":"88","author":"Biousse","year":"2020","journal-title":"Ann. 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Eye Res."},{"key":"ref22","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1016\/S0092-8674(00)81203-9","article-title":"Spastic paraplegia and OXPHOS impairment caused by mutations in Paraplegin, a nuclear-encoded mitochondrial Metalloprotease","volume":"93","author":"Casari","year":"1998","journal-title":"Cell"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"18641","DOI":"10.1038\/s41598-020-75661-x","article-title":"Accurate detection of cerebellar smooth pursuit eye movement abnormalities via Mobile phone video and machine learning","volume":"10","author":"Chang","year":"2020","journal-title":"Sci. Rep."},{"key":"ref24","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1212\/NXG.0000000000000428","article-title":"Mutations in the M-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy","volume":"6","author":"Charif","year":"2020","journal-title":"Neurology"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1111\/neup.12047","article-title":"Niemann-Pick disease type <scp>C<\/Scp> 1 predominantly involving the Frontotemporal region, with cortical and brainstem <scp>L<\/Scp> Ewy bodies: an autopsy case","volume":"34","author":"Chiba","year":"2014","journal-title":"Neuropathology"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"e2679","DOI":"10.1212\/WNL.0000000000007606","article-title":"Loss of Paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7","volume":"92","author":"Coarelli","year":"2019","journal-title":"Neurology"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1167\/jov.21.7.9","article-title":"Convolutional neural networks can decode eye movement data: a black box approach to predicting task from eye movements","volume":"21","author":"Cole","year":"2021","journal-title":"J. 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Dis."},{"key":"ref39","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1007\/s12311-020-01192-w","article-title":"Update on cerebellar ataxia with neuropathy and bilateral vestibular Areflexia syndrome (CANVAS)","volume":"20","author":"Dupr\u00e9","year":"2021","journal-title":"Cerebellum"},{"key":"ref40","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1093\/brain\/awt339","article-title":"Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency","volume":"137","author":"El Euch-Fayache","year":"2014","journal-title":"Brain"},{"key":"ref41","doi-asserted-by":"publisher","first-page":"2349","DOI":"10.1002\/mrm.28614","article-title":"High-resolution metabolic mapping of the cerebellum using 2D zoom magnetic resonance spectroscopic imaging","volume":"85","author":"Emir","year":"2021","journal-title":"Magn. Reson. 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Investig."},{"key":"ref48","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1093\/brain\/awn269","article-title":"Visual system involvement in patients with Friedreich\u2019s ataxia","volume":"132","author":"Fortuna","year":"2009","journal-title":"Brain"},{"key":"ref49","doi-asserted-by":"publisher","first-page":"1312","DOI":"10.1001\/jamaophthalmol.2019.3639","article-title":"Prevalence of Cerebrotendinous Xanthomatosis among patients diagnosed with acquired juvenile-onset idiopathic bilateral cataracts","volume":"137","author":"Freedman","year":"2019","journal-title":"JAMA Ophthalmol"},{"key":"ref50","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1016\/j.nicl.2013.03.018","article-title":"MRI findings in AOA2: cerebellar atrophy and abnormal iron detection in dentate nucleus","volume":"2","author":"Frismand","year":"2013","journal-title":"Neuro Image Clin"},{"key":"ref51","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1001\/archneur.1983.04050060043006","article-title":"Eye movements in Friedreich\u2019s ataxia","volume":"40","author":"Furman","year":"1983","journal-title":"Arch. Neurol."},{"key":"ref52","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1046\/j.1468-1331.2001.00273.x","article-title":"Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency","volume":"8","author":"Gabsi","year":"2001","journal-title":"Eur. J. Neurol."},{"key":"ref53","doi-asserted-by":"publisher","first-page":"8490","DOI":"10.3390\/ijms22168490","article-title":"Ngs in hereditary ataxia: when rare becomes frequent","volume":"22","author":"Galatolo","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"ref54","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-023-01559-9","article-title":"Quantitative Oculomotor assessment in hereditary ataxia: systematic review and consensus by the ataxia global initiative working group on digital-motor biomarkers","author":"Garces","year":"2023","journal-title":"Cerebellum"},{"key":"ref55","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1136\/bjophthalmol-2012-302309","article-title":"Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?","volume":"97","author":"Garcia-Martin","year":"2013","journal-title":"Br. J. Ophthalmol."},{"key":"ref56","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1006\/mgme.1999.2942","article-title":"Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations","volume":"68","author":"Gatti","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"ref57","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/j.mehy.2011.05.011","article-title":"Is the ataxia of Charlevoix-Saguenay a developmental disease?","volume":"77","author":"Gazulla","year":"2011","journal-title":"Med. Hypotheses"},{"key":"ref58","article-title":"Spastic paraplegia 7","volume-title":"GeneReviews\u00ae","author":"Giorgio","year":"2018"},{"key":"ref59","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1073\/pnas.1113166109","article-title":"Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)","volume":"109","author":"Girard","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"ref60","first-page":"249","article-title":"Etude Anatomo-Clinique d\u2019un Cas de Cholest\u00e9rinose C\u00e9r\u00e9brale","volume":"74","author":"Guillain","year":"1942","journal-title":"Arch Neurol"},{"key":"ref61","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/brain\/104.3.589","article-title":"FRIEDREICH\u2019S ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic CRITERIA and INTRAFAMILIAL clustering of clinical features","volume":"104","author":"Harding","year":"1981","journal-title":"Brain"},{"key":"ref62","doi-asserted-by":"publisher","first-page":"e279","DOI":"10.1212\/NXG.0000000000000279","article-title":"Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations","volume":"4","author":"Hewamadduma","year":"2018","journal-title":"Neurol Genet"},{"key":"ref63","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1007\/s12311-010-0178-5","article-title":"Ocular motor fixation deficits in Friedreich ataxia","volume":"9","author":"Hocking","year":"2010","journal-title":"Cerebellum"},{"key":"ref64","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1136\/jnnp-2011-301258","article-title":"Adult-onset cerebellar ataxia due to mutations in CABC1\/ADCK3","volume":"83","author":"Horvath","year":"2012","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref65","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1007\/s10545-006-0384-7","article-title":"The natural history of Niemann\u2013pick disease type C in the UK","volume":"30","author":"Imrie","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref66","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1016\/j.jns.2014.07.001","article-title":"Retinitis Pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin e deficiency with a novel c.717 Del C mutation in the TTPA gene","volume":"345","author":"Iwasa","year":"2014","journal-title":"J. Neurol. Sci."},{"key":"ref67","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/j.survophthal.2018.09.002","article-title":"The current state of artificial intelligence in ophthalmology","volume":"64","author":"Kapoor","year":"2019","journal-title":"Surv. Ophthalmol."},{"key":"ref68","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1186\/s40478-016-0326-3","article-title":"Purkinje cell injury, structural plasticity and fusion in patients with Friedreich\u2019s ataxia","volume":"4","author":"Kemp","year":"2016","journal-title":"Acta Neuropathol. Commun."},{"key":"ref69","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1016\/j.ophtha.2012.10.032","article-title":"Juvenile cataract morphology in 3 siblings not yet diagnosed with Cerebrotendinous Xanthomatosis","volume":"120","author":"Khan","year":"2013","journal-title":"Ophthalmology"},{"key":"ref70","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2018\/4019538","article-title":"A review on the extraction of quantitative retinal microvascular image feature","volume":"2018","author":"Kipli","year":"2018","journal-title":"Comput. Math. Methods Med."},{"key":"ref71","doi-asserted-by":"publisher","first-page":"2980","DOI":"10.1093\/brain\/aws240","article-title":"Spastic paraplegia gene 7 in patients with spasticity and\/or optic neuropathy","volume":"135","author":"Klebe","year":"2012","journal-title":"Brain"},{"key":"ref72","doi-asserted-by":"publisher","first-page":"905","DOI":"10.5551\/jat.RV17055","article-title":"Cerebrotendinous Xanthomatosis: molecular pathogenesis, clinical Spectrum, diagnosis, and disease-modifying treatments","volume":"28","author":"Koyama","year":"2021","journal-title":"J. Atheroscler. Thromb."},{"key":"ref73","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1016\/0022-510X(91)90073-G","article-title":"Cerebrotendinous Xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature","volume":"102","author":"Kuriyama","year":"1991","journal-title":"J. Neurol. 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