{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T03:09:22Z","timestamp":1784776162990,"version":"3.55.0"},"reference-count":22,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2017,4,9]]},"abstract":"<jats:p>Sleep apnoea and respiratory difficulties are reported in adult-onset Alexander\u2019s disease (AOAD), an autosomal-dominant leukodystrophy that presents mainly with progressive ataxia. We demonstrate for the first time that the respiratory symptoms can result from association of palatal tremor with a similar tremor of laryngeal and respiratory muscles that interrupts normal inspiration and expiration.<\/jats:p>\n               <jats:p>A 60-year-old woman presented with progressive ataxia, palatal tremor and breathlessness. MRI revealed medullary atrophy, bilateral T2 hyperintensities in the dentate nuclei and hypertrophic olivary degeneration (HOD). AOAD was confirmed genetically with a positive glial fibrillary acidic protein (GFAP) mutation. Electrophysiological study revealed 1.5\u2009Hz rhythmic laryngeal and respiratory muscle activity. Her respiratory symptoms were significantly improved at night with variable positive pressure ventilation.<\/jats:p>\n               <jats:p>This case illustrates that palatal tremor in AOAD, and potentially in other conditions, may be associated with treatable breathlessness due to a similar tremor of respiratory muscles.<\/jats:p>","DOI":"10.1136\/bcr-2016-218484","type":"journal-article","created":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T00:46:08Z","timestamp":1492994768000},"page":"bcr-2016-218484","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["Respiratory difficulty with palatal, laryngeal and respiratory muscle tremor in adult-onset Alexander\u2019s disease"],"prefix":"10.1136","volume":"2017","author":[{"given":"John","family":"McAuley","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Barking Havering and Redbridge University Hospitals NHS Trust, Romford, UK"},{"name":"Department of Neuroscience, Queen Mary University of London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rowena","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Barts Health NHS Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Simonds","sequence":"additional","affiliation":[{"name":"Sleep + Ventilation Unit, Royal Brompton Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjiv","family":"Chawda","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, BHR Hospitals, Romford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2017,4,23]]},"reference":[{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.12.2266"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn178"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.3","doi-asserted-by":"publisher","DOI":"10.1038\/83679"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.4","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.9.1307"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.5","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1212\/01.wnl.0000438230.33223.bc","article-title":"Neuroimaging and clinical features in type II (late-onset) Alexander disease","volume":"82","author":"Graff-Radford","year":"2014","journal-title":"Neurology"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.6","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1002\/mds.23042","article-title":"Sleep apnea associated with floppy epiglottis in adult-onset Alexander disease: a case report","volume":"25","author":"Ishikawa","year":"2010","journal-title":"Mov Disord"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.7","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1288\/00005537-198405000-00023","article-title":"Velo-pharyngo-laryngeal myoclonus: evaluation of objective tinnitus and extrathoracic airway obstruction","volume":"94","author":"Toland","year":"1984","journal-title":"Laryngoscope"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.8","first-page":"113","article-title":"Symptomatic palatal myoclonus: an unusual cause of respiratory difficulty","volume":"101","author":"Sumer","year":"2001","journal-title":"Acta Neurol Belg"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.9","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/117.4.775"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.10","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh137"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.11","doi-asserted-by":"publisher","DOI":"10.1007\/BF00697000"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.12","first-page":"1073","article-title":"Hypertrophic olivary degeneration: metaanalysis of the temporal evolution of MR findings","volume":"21","author":"Goyal","year":"2000","journal-title":"AJNR Am J Neuroradiol"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.13","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.parkreldis.2016.04.008","article-title":"Hypertrophic olivary degeneration: a clinico-radiologic study","volume":"28","author":"Konno","year":"2016","journal-title":"Parkinsonism Relat Disord"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.14","doi-asserted-by":"publisher","DOI":"10.1159\/000159929"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.15","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(98)01310-1"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.16","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/123.8.1545"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.17","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8257(199909)14:5<851::AID-MDS1022>3.0.CO;2-G"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.18","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/mdc3.12193","article-title":"Ocular palatal tremor plus dystonia \u2013 new syndromic association","volume":"2","author":"Shaikh","year":"2015","journal-title":"Mov Disord Clin Pract"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.19","first-page":"630","article-title":"Limb myorhythmia in association with hypertrophy of the inferior olive: report of two cases","volume":"23","author":"Wu","year":"2000","journal-title":"Chang Gung Med J"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.20","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.58.4.480"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.21","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1212\/01.wnl.0000267431.16316.69","article-title":"Isolated diaphragmatic tremor: is there a spectrum in \"respiratory myoclonus\"?","volume":"69","author":"Espay","year":"2007","journal-title":"Neurology"},{"key":"2025082702494782000_2017.apr23_1.bcr-2016-218484.22","doi-asserted-by":"crossref","unstructured":"Panda AK , Kushwaha S , Kaur M . Essential palatal tremor with hemifacial and vocal cord tremor. BMJ Case Rep 2013.","DOI":"10.1136\/bcr-2013-201327"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2016-218484","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:49:54Z","timestamp":1756288194000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2016-218484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,23]]},"references-count":22,"alternative-id":["10.1136\/bcr-2016-218484"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2016-218484","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,23]]}}}