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Later cerebellar, bulbar, and ocular signs, together with ATXN3 CAG expansion, clarified the diagnosis and highlighted the need to revisit atypical hereditary neuropathy diagnoses.<\/jats:p>","DOI":"10.1002\/ccr3.73182","type":"journal-article","created":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T06:52:41Z","timestamp":1784789561000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado\u2013Joseph Disease Presenting as Charcot\u2013Marie\u2013Tooth Disease: A Case Report"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-6349-4531","authenticated-orcid":false,"given":"Enoch Chi Ngai","family":"Lim","sequence":"first","affiliation":[{"name":"Translational Research Department Specialist Medical Services Group  Earlwood New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4448-8154","authenticated-orcid":false,"given":"Chi Eung Danforn","family":"Lim","sequence":"additional","affiliation":[{"name":"Translational Research Department Specialist Medical Services Group  Earlwood New South Wales Australia"},{"name":"NICM Health Research Institute Western Sydney University  Westmead New South Wales Australia"},{"name":"Data Science Institute University of Technology Sydney  Ultimo New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,22]]},"reference":[{"key":"e_1_2_17_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnagi.2022.917126"},{"key":"e_1_2_17_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.58.5.702"},{"key":"e_1_2_17_4_1","volume-title":"GeneReviews","author":"Paulson H. 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