{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T08:03:05Z","timestamp":1778313785679,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T00:00:00Z","timestamp":1695600000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The well\u2010known eye\u2010of\u2010the\u2010tiger sign features bilateral and symmetrical changes in the globus pallidus, with a central area of high signal and peripheral low signal on T2\u2010weighted MRI. Although formally considered pathognomonic of pantothenate kinase\u2010associated neurodegeneration (PKAN), there are other neurodegenerative or genetic diseases showing similar findings. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late\u2010onset ataxia, that was recently associated with biallelic AAGGG repeat expansion in the <jats:italic>RFC1<\/jats:italic> gene. Although its predominant MRI finding is cerebellar atrophy, there may be other less common associated findings. Our aim is to present two cases of CANVAS with associated (pseudo\u2010)eye\u2010of\u2010the\u2010tiger sign, highlighting the possibility of yet another differential diagnosis for this imaging sign.<\/jats:p>","DOI":"10.1002\/ajmg.a.63419","type":"journal-article","created":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T11:54:55Z","timestamp":1695642895000},"page":"103-106","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Pseudo\u2010eye\u2010of\u2010the\u2010tiger sign in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (<scp>CANVAS<\/scp>)"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8942-275X","authenticated-orcid":false,"given":"Vasco Sousa","family":"Abreu","sequence":"first","affiliation":[{"name":"Neuroradiology Department, Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 S\u00e1","family":"Silva","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liliana","family":"Igreja","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jo\u00e3o","family":"Malaquias","sequence":"additional","affiliation":[{"name":"Neurology Department, Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catarina Mendes","family":"Pinto","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9,25]]},"reference":[{"issue":"1","key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/brb3.8","article-title":"Eye\u2010of\u2010the\u2010tiger sign is not pathognomonic of pantothenate kinase\u2010associated neurodegeneration in adult cases","volume":"1","author":"Chang C.\u2010L.","year":"2011","journal-title":"Brain and Behavior: A Cognitive Neuroscience Perspective"},{"key":"e_1_2_6_3_1","volume-title":"GeneReviews [Internet]","author":"Cortese A.","year":"2020"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0372-4"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.217.3.r00dc31895"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-012-1113-y"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7322-y"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28711"},{"issue":"1","key":"e_1_2_6_9_1","first-page":"155","article-title":"Hallervorden\u2010Spatz disease: MR and pathologic findings","volume":"14","author":"Savoiardo M.","year":"1993","journal-title":"AJNR. 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