{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T01:57:56Z","timestamp":1773021476398,"version":"3.50.1"},"reference-count":11,"publisher":"BMJ","issue":"4","funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/M008606\/1"],"award-info":[{"award-number":["MR\/M008606\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/N020820\/1"],"award-info":[{"award-number":["MR\/N020820\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/S005021\/1"],"award-info":[{"award-number":["MR\/S005021\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/S006508\/1"],"award-info":[{"award-number":["MR\/S006508\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["205162\/Z\/16\/Z"],"award-info":[{"award-number":["205162\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2024,2,7]]},"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>A 57-year-old man developed worsening early morning headaches, muscle cramps and falls over 12 months. He had widespread fasciculation and was diagnosed with motor neurone disease, and treated with nocturnal hypoventilation. Based on this diagnosis, he made significant personal and financial decisions including retiring and selling his house. He subsequently developed a lump in his right breast and was found to have gynaecomastia. This triggered genetic testing for Kennedy\u2019s disease leading to the correct diagnosis. This case highlights an unusual presentation of a rare disease leading to misdiagnosis and major repercussions for the patient. Recent genetic analysis from the 100\u2009000 genome project suggests Kennedy\u2019s disease may be four times more prevalent in the population than previously thought, highlighting the need to consider genetic testing, especially if there is a suggestion of multisystem disease.<\/jats:p>","DOI":"10.1136\/pn-2023-004041","type":"journal-article","created":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T13:20:45Z","timestamp":1710422445000},"page":"302-305","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Kennedy\u2019s disease"],"prefix":"10.1136","volume":"24","author":[{"given":"Helen","family":"Devine","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"},{"name":"Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Solomons","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Zampedri","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael G","family":"Hanna","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Rinaldi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"},{"name":"Department of Paediatrics, University of Oxford, Oxford, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Fratta","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dipa","family":"Jayaseelan","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,3,14]]},"reference":[{"key":"2025090411550109000_24.4.302.1","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01366-z","article-title":"The French national protocol for Kennedy\u2019s disease (SBMA): consensus diagnostic and management recommendations","volume":"15","author":"Pradat","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"2025090411550109000_24.4.302.2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000507"},{"key":"2025090411550109000_24.4.302.3","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000151978.74467.E7"},{"key":"2025090411550109000_24.4.302.4","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1007\/s11325-020-02253-4","article-title":"Disorders of sleep in spinal and bulbar muscular atrophy (Kennedy\u2019s disease)","volume":"25","author":"Langenbruch","year":"2021","journal-title":"Sleep Breath"},{"key":"2025090411550109000_24.4.302.5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(200002)23:2<252::AID-MUS17>3.0.CO;2-P"},{"key":"2025090411550109000_24.4.302.6","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-316961"},{"key":"2025090411550109000_24.4.302.7","first-page":"204","article-title":"Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of Italian patients with spinal-bulbar muscular atrophy","volume":"37","author":"Francini-Pesenti","year":"2018","journal-title":"Acta Myol"},{"key":"2025090411550109000_24.4.302.8","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl096"},{"key":"2025090411550109000_24.4.302.9","doi-asserted-by":"publisher","DOI":"10.1038\/352077a0"},{"key":"2025090411550109000_24.4.302.10","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1007\/s13311-019-00790-9","article-title":"Molecular mechanisms and therapeutics for SBMA\/Kennedy\u2019s disease","volume":"16","author":"Arnold","year":"2019","journal-title":"Neurotherapeutics"},{"key":"2025090411550109000_24.4.302.11","doi-asserted-by":"crossref","first-page":"2723","DOI":"10.1093\/brain\/awad050","article-title":"Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population","volume":"146","author":"Zanovello","year":"2023","journal-title":"Brain"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2023-004041","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T18:55:08Z","timestamp":1757012108000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2023-004041"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,14]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,7,16]]},"published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1136\/pn-2023-004041"],"URL":"https:\/\/doi.org\/10.1136\/pn-2023-004041","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,14]]}}}