{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T04:49:19Z","timestamp":1783226959133,"version":"3.54.6"},"reference-count":16,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2019,8,18]]},"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:p>Friedreich\u2019s ataxia is classically considered a disease with onset in the first or second decade. However, late-onset (age of onset 25\u201339 years) and very-late-onset (age of onset &gt;40 years) forms do occur rarely. Misdiagnosis is common, particularly because the later onset forms of Friedreich\u2019s ataxia commonly do not show characteristic features of the disorder (areflexia, dysarthria, sensory neuropathy, extensor plantars, amyotrophy, cardiac involvement, diabetes mellitus, scoliosis). Also, there may be atypical features such as spasticity, brisk reflexes and laryngeal dystonia. We present the clinical, imaging and genetic findings of a kindred with very-late-onset Friedreich\u2019s ataxia and discuss the pitfalls and risk of misdiagnosis.<\/jats:p>","DOI":"10.1136\/practneurol-2019-002368","type":"journal-article","created":{"date-parts":[[2019,8,29]],"date-time":"2019-08-29T17:25:18Z","timestamp":1567099518000},"page":"55-58","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Very-late-onset Friedreich\u2019s ataxia: diagnosis in a kindred with late-onset cerebellar ataxia"],"prefix":"10.1136","volume":"20","author":[{"given":"Conor","family":"Fearon","sequence":"first","affiliation":[{"name":"Neurology, St James\"s Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roisin","family":"Lonergan","sequence":"additional","affiliation":[{"name":"Dublin Neurological Institute, Mater Misericordiae University Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Ferguson","sequence":"additional","affiliation":[{"name":"Neurology, St James\"s Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Byrne","sequence":"additional","affiliation":[{"name":"Neurology, Our Lady\"s Children\"s Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Bradley","sequence":"additional","affiliation":[{"name":"Neurology, St James\"s Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Langan","sequence":"additional","affiliation":[{"name":"Neurology, St James\"s Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Redmond","sequence":"additional","affiliation":[{"name":"Neurology, St James\"s Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,8,29]]},"reference":[{"key":"2025090410115615000_20.1.55.1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24595"},{"key":"2025090410115615000_20.1.55.2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/104.3.589"},{"key":"2025090410115615000_20.1.55.3","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2018-002096"},{"key":"2025090410115615000_20.1.55.4","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.12.1865"},{"key":"2025090410115615000_20.1.55.5","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050198"},{"key":"2025090410115615000_20.1.55.6","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-010-0235-0"},{"key":"2025090410115615000_20.1.55.7","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26382"},{"key":"2025090410115615000_20.1.55.8","doi-asserted-by":"crossref","first-page":"1776","DOI":"10.1212\/WNL.56.12.1776","article-title":"Very late onset Friedreich\"s presenting as spastic tetraparesis without ataxia or neuropathy","volume":"56","author":"Lhatoo","year":"2001","journal-title":"Neurology"},{"key":"2025090410115615000_20.1.55.9","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1007\/BF02249105","article-title":"Magnetic resonance imaging in \u201ctypical\u201d and \u201clate onset\u201d Friedreich\"s disease and early onset cerebellar ataxia with retained tendon reflexes","volume":"16","author":"De Michele","year":"1995","journal-title":"Ital J Neuro Sci"},{"key":"2025090410115615000_20.1.55.10","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1007\/s12311-016-0822-9","article-title":"Late-Onset Friedreich\u2019s Ataxia (LOFA) Mimicking Charcot\u2013Marie\u2013Tooth Disease Type 2: What Is Similar and What Is Different?","volume":"16","author":"Salom\u00e3o","year":"2017","journal-title":"Cerebellum"},{"key":"2025090410115615000_20.1.55.11","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20644"},{"key":"2025090410115615000_20.1.55.12","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(01)00681-5"},{"key":"2025090410115615000_20.1.55.13","unstructured":"Very late-onset Friedreich ataxia with laryngeal dystonia. Available: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/ [Accessed 16 Sep 2018]."},{"key":"2025090410115615000_20.1.55.14","doi-asserted-by":"publisher","DOI":"10.1101\/gr.141705.112"},{"key":"2025090410115615000_20.1.55.15","doi-asserted-by":"crossref","first-page":"117a","DOI":"10.1136\/jnnp.66.1.117a","article-title":"Molecular genetic diagnosis of Friedreich\"s ataxia in a pedigree with apparent autosomal dominant spinocerebellar degeneration","volume":"66","author":"De Silva","year":"1999","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025090410115615000_20.1.55.16","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1007\/s00415-013-6874-6","article-title":"Very late-onset Friedreich ataxia: later than life expectancy?","volume":"260","author":"Alvarez","year":"2013","journal-title":"J Neurol"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/practneurol-2019-002368","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T17:12:04Z","timestamp":1757005924000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/practneurol-2019-002368"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,29]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,1,14]]},"published-print":{"date-parts":[[2020,2]]}},"alternative-id":["10.1136\/practneurol-2019-002368"],"URL":"https:\/\/doi.org\/10.1136\/practneurol-2019-002368","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,29]]}}}