{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T23:14:18Z","timestamp":1784762058735,"version":"3.55.0"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,5,6]],"date-time":"2020-05-06T00:00:00Z","timestamp":1588723200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Exc 257"],"award-info":[{"award-number":["Exc 257"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008087","name":"Guthy-Jackson Charitable Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008087","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000890","name":"National Multiple Sclerosis Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000890","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spinocerebellar ataxia type 1 (SCA\u2010ATXN1) is an inherited progressive ataxia disorder characterized by an adult\u2010onset cerebellar syndrome combined with nonataxia signs. Retinal or optic nerve affection are not systematically described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe a retinal phenotype and its functional relevance in SCA\u2010ATXN1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We applied optical coherence tomography (OCT) in 20 index cases with SCA\u2010ATXN1 and 22 healthy controls (HCs), investigating qualitative changes and quantifying the peripapillary retinal nerve fiber layer (pRNFL) thickness and combined ganglion cell and inner plexiform layer (GCIP) volume as markers of optic atrophy and outer retinal layers as markers of maculopathy. Visual function was assessed by high\u2010 (HC\u2010VA) and low\u2010contrast visual acuity (LC\u2010VA) and the Hardy\u2010Rand\u2010Rittler pseudoisochromatic test for color vision.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five patients (25%) showed distinct maculopathies in the ellipsoid zone (EZ). Furthermore, pRNFL (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001) and GCIP (<jats:italic>P<\/jats:italic> = 0.002) were reduced in patients (pRNFL, 80.86\u2009\u00b1\u20099.49 \u03bcm; GCIP, 1.84\u2009\u00b1\u20090.16\u2009mm<jats:sup>3<\/jats:sup>) compared with HCs (pRNFL, 97.02\u2009\u00b1\u20098.34 \u03bcm; GCIP, 1.98\u2009\u00b1\u20090.12\u2009mm<jats:sup>3<\/jats:sup>). Outer macular layers were similar between groups, but reduced in patients with maculopathies. HC\u2010VA (<jats:italic>P<\/jats:italic> = 0.002) and LC\u2010VA (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001) were reduced in patients (HC\u2010VA [logMAR]: 0.01\u2009\u00b1\u2009010; LC\u2010VA [logMAR]: 0.44\u2009\u00b1\u20090.16) compared with HCs (HC\u2010VA [logMAR]: \u20130.12\u2009\u00b1 0.08; LC\u2010VA [logMAR]: 0.25\u2009\u00b1\u20090.05). Color vision was abnormal in 2 patients with maculopathies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A distinct maculopathy, termed EZ disruption, as well as optic atrophy add to the known nonataxia features in SCA\u2010ATXN1. Whereas optic atrophy may be understood as part of a widespread neurodegeneration, EZ disruption may be explained by effects of ataxin\u20101 gene or protein on photoreceptors. Our findings extend the spectrum of nonataxia signs in SCA\u2010ATXN1 with potential relevance for diagnosis and monitoring.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.12949","type":"journal-article","created":{"date-parts":[[2020,4,6]],"date-time":"2020-04-06T06:00:35Z","timestamp":1586152835000},"page":"502-508","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1"],"prefix":"10.1002","volume":"7","author":[{"given":"Frederike Cosima","family":"Oertel","sequence":"first","affiliation":[{"name":"Experimental and Clinical Research Center, Max\u2010Delbr\u00fcck\u2010Centrum f\u00fcr Molekulare Medizin and Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health  Berlin Germany"},{"name":"NeuroCure Clinical Research Center, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Zeitz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"R\u00f6nnefarth","sequence":"additional","affiliation":[{"name":"Department of Neurology, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health  Berlin 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Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health  Berlin Germany"},{"name":"NeuroCure Clinical Research Center, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna G.","family":"Zimmermann","sequence":"additional","affiliation":[{"name":"Experimental and Clinical Research Center, Max\u2010Delbr\u00fcck\u2010Centrum f\u00fcr Molekulare Medizin and Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin, and Berlin Institute of Health  Berlin Germany"},{"name":"NeuroCure Clinical Research Center, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin 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