{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:08:43Z","timestamp":1777486123207,"version":"3.51.4"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2018,3,12]],"date-time":"2018-03-12T00:00:00Z","timestamp":1520812800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/academic.oup.com\/journals\/pages\/about_us\/legal\/notices"}],"funder":[{"DOI":"10.13039\/501100000346","name":"Ataxia UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000346","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,4,1]]},"DOI":"10.1093\/brain\/awy028","type":"journal-article","created":{"date-parts":[[2018,3,2]],"date-time":"2018-03-02T07:09:52Z","timestamp":1519974592000},"page":"989-999","source":"Crossref","is-referenced-by-count":52,"title":["Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay"],"prefix":"10.1093","volume":"141","author":[{"given":"Michael H","family":"Parkinson","sequence":"first","affiliation":[{"name":"Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK"},{"name":"National Hospital for Neurology and Neurosurgery, Queen Square, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana P","family":"Bartmann","sequence":"additional","affiliation":[{"name":"National Hospital for Neurology and Neurosurgery, Queen Square, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa M S","family":"Clayton","sequence":"additional","affiliation":[{"name":"National Hospital for Neurology and Neurosurgery, Queen Square, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suran","family":"Nethisinghe","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J Paul","family":"Chapple","sequence":"additional","affiliation":[{"name":"William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary M","family":"Reilly","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK"},{"name":"National Hospital for Neurology and Neurosurgery, Queen Square, London, UK"},{"name":"MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hadi","family":"Manji","sequence":"additional","affiliation":[{"name":"National Hospital for Neurology and Neurosurgery, Queen Square, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas J","family":"Wood","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK"},{"name":"National Hospital for Neurology and Neurosurgery, Queen Square, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fion","family":"Bremner","sequence":"additional","affiliation":[{"name":"National Hospital for Neurology and Neurosurgery, Queen Square, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3508-4788","authenticated-orcid":false,"given":"Paola","family":"Giunti","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK"},{"name":"National Hospital for Neurology and Neurosurgery, Queen Square, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2018,3,12]]},"reference":[{"key":"key\n\t\t\t\t20180625113858_awy028-B1","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1136\/jnnp-2015-310521","article-title":"Retinal nerve fibre layer thinning is associated with drug resistance in epilepsy","volume":"87","author":"Balestrini","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key\n\t\t\t\t20180625113858_awy028-B2","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.ophtha.2004.06.034","article-title":"Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy","volume":"112","author":"Barboni","year":"2005","journal-title":"Ophthalmology"},{"key":"key\n\t\t\t\t20180625113858_awy028-B3","first-page":"451","article-title":"Recessive spastic ataxia of Charlevoix-Saguenay","volume":"16","author":"Bouchard","year":"1991","journal-title":"Handb Clin Neurol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B4","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1017\/S0317167100024793","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"5","author":"Bouchard","year":"1978","journal-title":"Can J Neurol Sci"},{"key":"key\n\t\t\t\t20180625113858_awy028-B5","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/S0960-8966(98)00055-8","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"8","author":"Bouchard","year":"1998","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20180625113858_awy028-B6","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1002\/ana.22266","article-title":"Retinal nerve fiber layer thickness in vigabatrin-exposed patients","volume":"69","author":"Clayton","year":"2011","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B7","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1007\/s12311-011-0286-x","article-title":"Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"10","author":"Desserre","year":"2011","journal-title":"Cerebellum"},{"key":"key\n\t\t\t\t20180625113858_awy028-B8","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/72769","article-title":"ARSACS, a spastic ataxia common in Northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF","volume":"24","author":"Engert","year":"2000","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180625113858_awy028-B9","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1006\/exer.1997.0388","article-title":"Morphological consequences of myelination in the human retina","volume":"65","author":"Fitzgibbon","year":"1997","journal-title":"Exp Eye Res"},{"key":"key\n\t\t\t\t20180625113858_awy028-B10","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1093\/brain\/awn269","article-title":"Visual system involvement in patients with Friedreich's ataxia","volume":"132","author":"Fortuna","year":"2009","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180625113858_awy028-B11","doi-asserted-by":"crossref","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 Ophthal"},{"key":"key\n\t\t\t\t20180625113858_awy028-B12","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1007\/s00415-011-6269-5","article-title":"New findings in the ataxia of Charlevoix-Saguenay","volume":"259","author":"Gazulla","year":"2012","journal-title":"J Neurol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B13","doi-asserted-by":"crossref","first-page":"2403","DOI":"10.1016\/j.ophtha.2011.06.013","article-title":"Variation in optic nerve and macular structure with age and race with spectral-domain optical coherence tomography","volume":"118","author":"Girkin","year":"2011","journal-title":"Ophthalmol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B14","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1212\/01.WNL.0000104491.66816.77","article-title":"Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type","volume":"62","author":"Grieco","year":"2004","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180625113858_awy028-B15","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1055\/s-2001-16616","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families","volume":"32","author":"G\u00fcc\u00fcyener","year":"2001","journal-title":"Neuropediatrics"},{"key":"key\n\t\t\t\t20180625113858_awy028-B16","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1167\/iovs.08-2936","article-title":"Thickness of receptor and post-receptor retinal layers in patients with retinitis pigmentosa measured with frequency-domain optical coherence tomography","volume":"50","author":"Hood","year":"2009","journal-title":"Invest Ophthal Vis Sci"},{"key":"key\n\t\t\t\t20180625113858_awy028-B17","doi-asserted-by":"crossref","first-page":"2071","DOI":"10.1093\/brain\/120.11.2071","article-title":"Direct observation of myelination in vivo in the mature human central nervous system. A model for the behaviour of oligodendrocyte progenitors and their progeny","volume":"120","author":"Hunter","year":"1997","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180625113858_awy028-B18","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1097\/WCO.0b013e328334e99b","article-title":"Optical coherence tomography of the retina: applications in neurology","volume":"23","author":"Jindahra","year":"2010","journal-title":"Curr Opin Neurol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B19","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1136\/bjo.2004.049486","article-title":"Optical coherence tomography of the retinal nerve fibre layer in mild papilloedema and pseudopapilloedema","volume":"89","author":"Karam","year":"2005","journal-title":"Br J Ophthal"},{"key":"key\n\t\t\t\t20180625113858_awy028-B20","doi-asserted-by":"crossref","first-page":"248","DOI":"10.3341\/kjo.2011.25.4.248","article-title":"Attenuated age-related thinning of peripapillary retinal nerve fiber layer in lomg eyes","volume":"25","author":"Kim","year":"2011","journal-title":"Kor J Ophthalmol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B21","doi-asserted-by":"crossref","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":"key\n\t\t\t\t20180625113858_awy028-B22","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1097\/WNO.0b013e3181b2828e","article-title":"Ophthalmic features of spinocerebellar ataxia type 7","volume":"29","author":"Manrique","year":"2009","journal-title":"J Neuroophthalmol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B23","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1212\/WNL.54.7.1408","article-title":"Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family","volume":"54","author":"Mrissa","year":"2000","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180625113858_awy028-B24","doi-asserted-by":"crossref","first-page":"197","DOI":"10.3109\/01658107.2011.595043","article-title":"Retinal imaging in autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"35","author":"Nethisinghe","year":"2011","journal-title":"Neuroophthalmol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B25","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/eye.2011.291","article-title":"Ophthalmic features of Friedreich ataxia","volume":"26","author":"Noval","year":"2012","journal-title":"Eye"},{"key":"key\n\t\t\t\t20180625113858_awy028-B26","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1212\/01.WNL.0000099371.14478.73","article-title":"Identification of a SACS gene missense mutation in ARSACS","volume":"62","author":"Ogawa","year":"2004","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180625113858_awy028-B27","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1212\/01.wnl.0000204300.94261.ea","article-title":"Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon","volume":"66","author":"Ouyang","year":"2006","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180625113858_awy028-B28","first-page":"12","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)","volume":"13","author":"Parkinson","year":"2014","journal-title":"Adv Clin Neurosci Rehabil"},{"key":"key\n\t\t\t\t20180625113858_awy028-B29","first-page":"1871","article-title":"Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients","volume":"17","author":"Pablo","year":"2011","journal-title":"Mol Vis"},{"key":"key\n\t\t\t\t20180625113858_awy028-B30","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1111\/j.1468-1331.2012.03815.x","article-title":"Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series","volume":"20","author":"Prodi","year":"2013","journal-title":"Eur J Neurol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B31","doi-asserted-by":"crossref","first-page":"108","DOI":"10.3109\/01658107.2011.580898","article-title":"Retinal nerve fibre layer and macular thinning in spinocerebellar ataxia and cerebellar multisystem atrophy","volume":"35","author":"Pula","year":"2011","journal-title":"Neuroophthalmol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B32","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1001\/archopht.124.8.1111","article-title":"Detection and quantification of retinal nerve fiber layer thickness in optic disc edema using stratus oct","volume":"124","author":"Savini","year":"2006","journal-title":"Arch Ophthal"},{"key":"key\n\t\t\t\t20180625113858_awy028-B33","doi-asserted-by":"crossref","first-page":"2362","DOI":"10.1007\/s00415-013-6978-z","article-title":"Analysis of the visual system in Friedreich ataxia","volume":"260","author":"Seyer","year":"2013","journal-title":"J Neurol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B34","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1136\/jnnp-2012-303634","article-title":"The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits","volume":"84","author":"Stevens","year":"2013","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key\n\t\t\t\t20180625113858_awy028-B35","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0002-9394(81)90345-7","article-title":"Myelinated retinal nerve fibers","volume":"91","author":"Straatsma","year":"1981","journal-title":"Am J Ophthal"},{"key":"key\n\t\t\t\t20180625113858_awy028-B36","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1111\/j.1440-1789.2006.00664.x","article-title":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"26","author":"Takiyama","year":"2006","journal-title":"Neuropathology"},{"key":"key\n\t\t\t\t20180625113858_awy028-B37","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1016\/j.survophthal.2007.08.016","article-title":"Syndrome of myelinated retinal nerve fibers, myopia, and amblyopia: a review","volume":"52","author":"Tarabishy","year":"2007","journal-title":"Survey Ophthal"},{"key":"key\n\t\t\t\t20180625113858_awy028-B38","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1017\/S0317167100012968","article-title":"Diversity of ARSACS mutations in French-Canadians","volume":"40","author":"Thiffault","year":"2013","journal-title":"Can J Neurol Sci"},{"key":"key\n\t\t\t\t20180625113858_awy028-B39","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.jns.2016.09.023","article-title":"Retinal nerve fiber layer thickening in ARSACS carriers","volume":"370","author":"Van Lint","year":"2016","journal-title":"J Neurol Sci"},{"key":"key\n\t\t\t\t20180625113858_awy028-B40","article-title":"Clinical and genetic characterisation of autosomal recessive cerebellar ataxias","author":"Vermeer","year":"2012"},{"key":"key\n\t\t\t\t20180625113858_awy028-B41","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s10048-008-0131-7","article-title":"ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia","volume":"9","author":"Vermeer","year":"2008","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20180625113858_awy028-B42","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1111\/j.1468-1331.2010.03335.x","article-title":"Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay","volume":"18","author":"Vingolo","year":"2011","journal-title":"Eur J Neurol"},{"key":"key\n\t\t\t\t20180625113858_awy028-B43","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1136\/bjophthalmol-2013-304534","article-title":"Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes","volume":"98","author":"Yu-Wai-Man","year":"2014","journal-title":"Br J Ophthal"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/141\/4\/989\/25082983\/awy028.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,12]],"date-time":"2019-10-12T00:42:05Z","timestamp":1570840925000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/141\/4\/989\/4930786"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,12]]},"references-count":43,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2018,3,12]]},"published-print":{"date-parts":[[2018,4,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awy028","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,4]]},"published":{"date-parts":[[2018,3,12]]}}}