{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T06:00:04Z","timestamp":1794031204667,"version":"4.8.0"},"reference-count":39,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. Many patients remain undiagnosed (\u2018idiopathic\u2019 ataxia). This paper provides suggested diagnostic pathways for the general neurologist, based on Ataxia UK\u2019s guidelines for professionals. MR brain scanning can provide diagnostic clues, as well as identify \u2018structural\u2019 causes such as tumours and multiple sclerosis. Advances in molecular genetics, including the wider and cheaper availability of \u2018next-generation sequencing\u2019, have enabled clinicians to identify many more cases with a genetic cause. Finally, autoimmunity is probably an under-recognised cause of progressive ataxia: as well as patients with antigliadin antibodies there are smaller numbers with various antibodies, including some associated with cancer. There are a few treatable ataxias, but also symptomatic treatments to help people with the spectrum of complications that might accompany progressive ataxias. Multidisciplinary team involvement and allied health professionals\u2019 input are critical to excellent patient care, including in the palliative phase. We can no longer justify a nihilistic approach to the management of ataxia.<\/jats:p>","DOI":"10.1136\/practneurol-2018-002096","type":"journal-article","created":{"date-parts":[[2019,5,2]],"date-time":"2019-05-02T17:25:56Z","timestamp":1556817956000},"page":"196-207","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":97,"title":["Diagnosis and management of progressive ataxia in adults"],"prefix":"10.1136","volume":"19","author":[{"given":"Rajith Nilantha","family":"de Silva","sequence":"first","affiliation":[{"name":"Department of Neurology, Essex Centre for Neurological Sciences, Queen\u2019s Hospital, Romford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Vallortigara","sequence":"additional","affiliation":[{"name":"Ataxia UK, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Greenfield","sequence":"additional","affiliation":[{"name":"Ataxia UK, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry","family":"Hunt","sequence":"additional","affiliation":[{"name":"Ataxia UK, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Giunti","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, Ataxia Centre, UCL Institute of Neurology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Hadjivassiliou","sequence":"additional","affiliation":[{"name":"Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, Sheffield, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,5,2]]},"reference":[{"key":"2025090409460360000_19.3.196.1","unstructured":"Bonney H , de Silva R , Giunti P . Management of the ataxias: towards best clinical practice. 3rd edn. Ataxia UK, 2016."},{"key":"2025090409460360000_19.3.196.2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.28"},{"key":"2025090409460360000_19.3.196.3","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000219042.60538.92"},{"key":"2025090409460360000_19.3.196.4","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328359da15"},{"key":"2025090409460360000_19.3.196.5","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2017-001619"},{"key":"2025090409460360000_19.3.196.6","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt236"},{"key":"2025090409460360000_19.3.196.7","doi-asserted-by":"publisher","DOI":"10.1159\/000358801"},{"key":"2025090409460360000_19.3.196.8","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001369"},{"key":"2025090409460360000_19.3.196.9","first-page":"13","article-title":"002 detecting retinal changes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) using optical coherence tomography (OCT)","volume":"83","author":"Giunti","year":"2011","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025090409460360000_19.3.196.10","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1007\/s00415-016-8112-5","article-title":"Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases","volume":"263","author":"Mallaret","year":"2016","journal-title":"J Neurol"},{"key":"2025090409460360000_19.3.196.11","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-314863"},{"key":"2025090409460360000_19.3.196.12","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-315106.203"},{"key":"2025090409460360000_19.3.196.13","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2018-318215"},{"key":"2025090409460360000_19.3.196.14","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.74.9.1221"},{"key":"2025090409460360000_19.3.196.15","unstructured":"Schuelke M . Ataxia with vitamin E deficiency. GeneReviews, 2013."},{"key":"2025090409460360000_19.3.196.16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.024"},{"key":"2025090409460360000_19.3.196.17","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2012.206"},{"key":"2025090409460360000_19.3.196.18","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9434-1"},{"key":"2025090409460360000_19.3.196.19","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7476-7"},{"key":"2025090409460360000_19.3.196.20","doi-asserted-by":"crossref","unstructured":"Federico A , Dotti MT , Gallus GN . Cerebrotendinous xanthomatosis. GeneReviews, 2003.","DOI":"10.1177\/08830738030180091001"},{"key":"2025090409460360000_19.3.196.21","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2011-000003"},{"key":"2025090409460360000_19.3.196.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.03.012"},{"key":"2025090409460360000_19.3.196.23","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx297"},{"key":"2025090409460360000_19.3.196.24","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.12196"},{"key":"2025090409460360000_19.3.196.25","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70194-1"},{"key":"2025090409460360000_19.3.196.26","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0284-z"},{"key":"2025090409460360000_19.3.196.27","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp336"},{"key":"2025090409460360000_19.3.196.28","doi-asserted-by":"crossref","unstructured":"Khan F , Amatya B , Bensmail D , et al . Non-pharmacological interventions for spasticity in adults: an overview of systematic reviews. Ann Phys Rehabil Med 2017:30415\u20133.doi:10.1016\/j.rehab.2017.10.001","DOI":"10.1016\/j.rehab.2017.10.001"},{"key":"2025090409460360000_19.3.196.29","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.159178"},{"key":"2025090409460360000_19.3.196.30","first-page":"395","volume-title":"Evaluation and treatment of swallowing disorders","volume":"6","author":"Logemann","year":"1998"},{"key":"2025090409460360000_19.3.196.31","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1093\/brain\/awx317","article-title":"The cerebellar cognitive affective\/Schmahmann syndrome scale","volume":"141","author":"Hoche","year":"2018","journal-title":"Brain"},{"key":"2025090409460360000_19.3.196.32","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22864"},{"key":"2025090409460360000_19.3.196.33","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.ijcard.2015.05.074","article-title":"The cardiomyopathy in Friedreich's ataxia - New biomarker for staging cardiac involvement","volume":"194","author":"Weidemann","year":"2015","journal-title":"Int J Cardiol"},{"key":"2025090409460360000_19.3.196.34","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0b013e31829e8776"},{"key":"2025090409460360000_19.3.196.35","unstructured":"Spacey S . Episodic ataxia type 2. GeneReviews, 2003."},{"key":"2025090409460360000_19.3.196.36","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318225ab07"},{"key":"2025090409460360000_19.3.196.37","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.326.7379.30"},{"key":"2025090409460360000_19.3.196.38","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000279","article-title":"Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations","volume":"4","author":"Hewamadduma","year":"2018","journal-title":"Neurol Genet"},{"key":"2025090409460360000_19.3.196.39","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41588-019-0372-4","article-title":"Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia","volume":"51","author":"Cortese","year":"2019","journal-title":"Nat Genet"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/practneurol-2018-002096","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T16:46:16Z","timestamp":1757004376000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/practneurol-2018-002096"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,2]]},"references-count":39,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,5,21]]},"published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1136\/practneurol-2018-002096"],"URL":"https:\/\/doi.org\/10.1136\/practneurol-2018-002096","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.735686155.793582714","asserted-by":"object"}]},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,2]]}}}