{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T04:31:37Z","timestamp":1772166697404,"version":"3.50.1"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T00:00:00Z","timestamp":1626307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T00:00:00Z","timestamp":1626307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"CHUP","award":["2017"],"award-info":[{"award-number":["2017"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["cerebellum ataxias"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Friedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being rare.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case report<\/jats:title>\n                    <jats:p>\n                      We describe a patient, homozygous for a 873 GAA expansion in the\n                      <jats:italic>FXN<\/jats:italic>\n                      gene, whose first symptoms appeared by the age of 8. At 22\u2009years-old he developed sensorineural deafness, and at 26 visual impairment. Deafness had a progressive course over 11 years, until a stage of extreme severity which hindered communication. Visual acuity had a catastrophic deterioration, with blindness 3 years after visual impairment was first noticed. Audiograms documented progressive sensorineural deafness, most striking for low frequencies. Visual evoked potentials disclosed bilaterally increased P100 latency. He passed away at the age of 41\u2009years old, at a stage of extreme disability, blind and deaf, in addition to the complete phenotype of a patient with Friedreich ataxia of more than 30\u2009years duration.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Severe vision loss and extreme deafness has been described in very few patients with Friedreich ataxia. Long duration, severe disease and large expanded alleles may account for such an extreme phenotype; nonetheless, the role of factors as modifying genes warrants further investigation in this subset of patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s40673-021-00140-6","type":"journal-article","created":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T08:08:02Z","timestamp":1626336482000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report"],"prefix":"10.1186","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6539-6398","authenticated-orcid":false,"given":"Joana","family":"Dam\u00e1sio","sequence":"first","affiliation":[]},{"given":"Ana","family":"Sardoeira","sequence":"additional","affiliation":[]},{"given":"Maria","family":"Ara\u00fajo","sequence":"additional","affiliation":[]},{"given":"Isabel","family":"Carvalho","sequence":"additional","affiliation":[]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[]},{"given":"Jos\u00e9","family":"Barros","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2021,7,15]]},"reference":[{"issue":"11","key":"140_CR1","doi-asserted-by":"publisher","first-page":"1771","DOI":"10.1093\/hmg\/6.11.1771","volume":"6","author":"V Campuzano","year":"1997","unstructured":"Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet. 1997;6(11):1771\u201380. https:\/\/doi.org\/10.1093\/hmg\/6.11.1771.","journal-title":"Hum Mol Genet"},{"issue":"3","key":"140_CR2","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/brain\/104.3.589","volume":"104","author":"AE Harding","year":"1981","unstructured":"Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 1981;104(3):589\u2013620. https:\/\/doi.org\/10.1093\/brain\/104.3.589.","journal-title":"Brain"},{"issue":"1","key":"140_CR3","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1002\/mds.26382","volume":"31","author":"C Lecocq","year":"2016","unstructured":"Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, et al. Delayed-onset Friedreich's ataxia revisited. Move Disord. 2016;31(1):62\u20139. https:\/\/doi.org\/10.1002\/mds.26382.","journal-title":"Move Disord"},{"issue":"10","key":"140_CR4","doi-asserted-by":"publisher","first-page":"e917","DOI":"10.1212\/WNL.0000000000006121","volume":"91","author":"K Reetz","year":"2018","unstructured":"Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, et al. Nonataxia symptoms in Friedreich Ataxia: report from the registry of the European Friedreich's Ataxia consortium for translational studies (EFACTS). Neurology. 2018;91(10):e917\u2013e30. https:\/\/doi.org\/10.1212\/WNL.0000000000006121.","journal-title":"Neurology."},{"issue":"1","key":"140_CR5","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1093\/brain\/awn269","volume":"132","author":"F Fortuna","year":"2009","unstructured":"Fortuna F, Barboni P, Liguori R, Valentino ML, Savini G, Gellera C, et al. Visual system involvement in patients with Friedreich's ataxia. Brain. 2009;132(1):116\u201323. https:\/\/doi.org\/10.1093\/brain\/awn269.","journal-title":"Brain"},{"issue":"16","key":"140_CR6","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1056\/NEJM199610173351601","volume":"335","author":"A Durr","year":"1996","unstructured":"Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 1996;335(16):1169\u201375. https:\/\/doi.org\/10.1056\/NEJM199610173351601.","journal-title":"N Engl J Med"},{"issue":"8","key":"140_CR7","doi-asserted-by":"publisher","first-page":"2002","DOI":"10.1093\/brain\/awn104","volume":"131","author":"G Rance","year":"2008","unstructured":"Rance G, Fava R, Baldock H, Chong A, Barker E, Corben L, et al. Speech perception ability in individuals with Friedreich ataxia. Brain. 2008;131(8):2002\u201312. https:\/\/doi.org\/10.1093\/brain\/awn104.","journal-title":"Brain"},{"issue":"Pt 12","key":"140_CR8","doi-asserted-by":"publisher","first-page":"2131","DOI":"10.1093\/brain\/120.12.2131","volume":"120","author":"L Schols","year":"1997","unstructured":"Schols L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain. 1997;120(Pt 12):2131\u201340. https:\/\/doi.org\/10.1093\/brain\/120.12.2131.","journal-title":"Brain"},{"issue":"2","key":"140_CR9","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1093\/brain\/103.2.413","volume":"103","author":"WM Carroll","year":"1980","unstructured":"Carroll WM, Kriss A, Baraitser M, Barrett G, Halliday AM. The incidence and nature of visual pathway involvement in Friedreich's ataxia. A clinical and visual evoked potential study of 22 patients. Brain. 1980;103(2):413\u201334. https:\/\/doi.org\/10.1093\/brain\/103.2.413.","journal-title":"Brain"},{"issue":"9","key":"140_CR10","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1177\/0883073812448963","volume":"27","author":"G Rance","year":"2012","unstructured":"Rance G, Corben L, Delatycki M. Auditory processing deficits in children with Friedreich ataxia. J Child Neurol. 2012;27(9):1197\u2013203. https:\/\/doi.org\/10.1177\/0883073812448963.","journal-title":"J Child Neurol"},{"issue":"2","key":"140_CR11","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1001\/archopht.125.2.273","volume":"125","author":"N Porter","year":"2007","unstructured":"Porter N, Downes SM, Fratter C, Anslow P, Nemeth AH. Catastrophic visual loss in a patient with Friedreich ataxia. Arch Ophthalmol. 2007;125(2):273\u20134. https:\/\/doi.org\/10.1001\/archopht.125.2.273.","journal-title":"Arch Ophthalmol"},{"issue":"2","key":"140_CR12","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1007\/s10048-009-0233-x","volume":"11","author":"B Diehl","year":"2010","unstructured":"Diehl B, Lee MS, Reid JR, Nielsen CD, Natowicz MR. Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia. Neurogenetics. 2010;11(2):261\u20135. https:\/\/doi.org\/10.1007\/s10048-009-0233-x.","journal-title":"Neurogenetics."},{"issue":"11","key":"140_CR13","doi-asserted-by":"publisher","first-page":"1582","DOI":"10.1001\/archopht.121.11.1582","volume":"121","author":"CD Alldredge","year":"2003","unstructured":"Alldredge CD, Schlieve CR, Miller NR, Levin LA. Pathophysiology of the optic neuropathy associated with Friedreich ataxia. Arch Ophthalmol. 2003;121(11):1582\u20135. https:\/\/doi.org\/10.1001\/archopht.121.11.1582.","journal-title":"Arch Ophthalmol"}],"container-title":["Cerebellum &amp; Ataxias"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40673-021-00140-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40673-021-00140-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40673-021-00140-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T08:13:51Z","timestamp":1626336831000},"score":1,"resource":{"primary":{"URL":"https:\/\/cerebellumandataxias.biomedcentral.com\/articles\/10.1186\/s40673-021-00140-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,15]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["140"],"URL":"https:\/\/doi.org\/10.1186\/s40673-021-00140-6","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-573040\/v1","asserted-by":"object"}]},"ISSN":["2053-8871"],"issn-type":[{"value":"2053-8871","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,15]]},"assertion":[{"value":"2 June 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 July 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 July 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This work is part of a project that has been reviewed and approved by the institutional review board from Centro Hospitalar Universit\u00e1rio do Porto.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Permission for the publication of this article and associated video was obtained from the patient and his parents, via written informed consent, in compliance with laws regarding patient authorization relating to the use or disclosure of protected health information.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Joana Dam\u00e1sio has received a research grant from Centro Hospitalar Universit\u00e1rio do Porto and has received a speaking fee from Zambon. Ana Sardoeira, Maria Ara\u00fajo, Isabel Carvalho, Jorge Sequeiros and Jos\u00e9 Barros have nothing to disclosure.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"17"}}