{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:49:20Z","timestamp":1787014160169,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,4,30]],"date-time":"2019-04-30T00:00:00Z","timestamp":1556582400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["G0601943"],"award-info":[{"award-number":["G0601943"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:sec>\n                    <jats:title>Background and purpose<\/jats:title>\n                    <jats:p>\n                      Bowel symptoms are well documented in mitochondrial disease. However, data concerning other pelvic organs is limited. A large case\u2013control study has therefore been undertaken to determine the presence of lower urinary tract symptoms (\n                      <jats:styled-content style=\"fixed-case\">LUTS<\/jats:styled-content>\n                      ) and sexual dysfunction in adults with genetically confirmed mitochondrial disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Adults with genetically confirmed mitochondrial disease and control subjects were recruited from a specialist mitochondrial clinic. The presence and severity of\n                      <jats:styled-content style=\"fixed-case\">LUTS<\/jats:styled-content>\n                      and their impact on quality of life, in addition to sexual dysfunction and bowel symptoms, were captured using four validated questionnaires. Subgroup analysis was undertaken in patients harbouring the m.3243A&gt;G\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">MT<\/jats:styled-content>\n                        \u2010\n                        <jats:styled-content style=\"fixed-case\">TL<\/jats:styled-content>\n                        1\n                      <\/jats:italic>\n                      mitochondrial\n                      <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                      mutation. A subset of patients underwent urodynamic studies to further characterize their\n                      <jats:styled-content style=\"fixed-case\">LUTS<\/jats:styled-content>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Data from 58 patients and 19 controls (gender and age matched) were collected. Adults with mitochondrial disease had significantly more overactive bladder (81.5% vs. 56.3%,\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u00a00.039) and low stream (34.5% vs. 5.3%,\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u00a00.013) urinary symptoms than controls. Urodynamic studies in 10 patients confirmed that bladder storage symptoms predominate. Despite high rates of\n                      <jats:styled-content style=\"fixed-case\">LUTS<\/jats:styled-content>\n                      , none of the patient group was receiving treatment. Female patients and those harbouring the m.3243A&gt;G\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">MT<\/jats:styled-content>\n                        \u2010\n                        <jats:styled-content style=\"fixed-case\">TL<\/jats:styled-content>\n                        1\n                      <\/jats:italic>\n                      mutation experienced significantly more sexual dysfunction than controls (53.1% vs. 11.1%,\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u00a00.026, and 66.7% vs. 26.3%,\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u00a00.011, respectively).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Lower urinary tract symptoms are common but undertreated in adult mitochondrial disease, and female patients and those harbouring the m.3243A&gt;G\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">MT<\/jats:styled-content>\n                        \u2010\n                        <jats:styled-content style=\"fixed-case\">TL<\/jats:styled-content>\n                        1\n                      <\/jats:italic>\n                      mutation experience sexual dysfunction. Given their impact on quality of life, screening for and treating\n                      <jats:styled-content style=\"fixed-case\">LUTS<\/jats:styled-content>\n                      and sexual dysfunction in adults with mitochondrial disease are strongly recommended.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.13952","type":"journal-article","created":{"date-parts":[[2019,3,18]],"date-time":"2019-03-18T17:56:52Z","timestamp":1552931812000},"page":"1111-1120","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Urogenital symptoms in mitochondrial disease: overlooked and undertreated"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9046-8499","authenticated-orcid":false,"given":"O. V.","family":"Poole","sequence":"first","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Uchiyama","sequence":"additional","affiliation":[{"name":"Department of Uro\u2010Neurology UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK"},{"name":"Department of Neurology School of Medicine International University of Health and Welfare Chiba Japan"},{"name":"Department of Neurology School of Medicine International University of Health and Welfare Ichikawa Hospital Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Skorupinska","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Skorupinska","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Germain","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Kozyra","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Holmes","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"James","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bugiardini","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Woodward","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Quinlivan","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London UK"},{"name":"Dubowitz Neuromuscular Centre Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Emmanuel","sequence":"additional","affiliation":[{"name":"Gastro\u2010Intestinal Physiology Unit University College London Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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