{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:44:23Z","timestamp":1790858663902,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,8,30]],"date-time":"2018-08-30T00:00:00Z","timestamp":1535587200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institute for Health Research Biomedical Research Centre"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with <jats:italic>POLG<\/jats:italic> disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We identified children with genetically confirmed <jats:italic>POLG<\/jats:italic> disease, in whom CSF neurotransmitter analysis had been undertaken. Clinical data were collected retrospectively. CSF neurotransmitter levels were compared to both standardised age\u2010related reference ranges and to non\u2010<jats:italic>POLG<\/jats:italic> patients presenting with status epilepticus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Forty\u2010one patients with <jats:italic>POLG<\/jats:italic> disease were identified. Almost 50% of the patients had documented evidence of a movement disorder, including non\u2010epileptic myoclonus, choreoathetosis and ataxia. CSF neurotransmitter analysis was undertaken in 15 cases and abnormalities were seen in the majority (87%) of cases tested. In many patients, distinctive patterns were evident, including raised neopterin, homovanillic acid and 5\u2010hydroxyindoleacetic acid levels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Children with <jats:italic>POLG<\/jats:italic> mutations can manifest with a wide spectrum of abnormal movements, which are often prominent features of the clinical syndrome. Underlying pathophysiology is probably multifactorial, and aberrant monoamine metabolism is likely to play a role.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-018-0227-7","type":"journal-article","created":{"date-parts":[[2018,8,30]],"date-time":"2018-08-30T09:42:01Z","timestamp":1535622121000},"page":"1275-1283","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Spectrum of movement disorders and neurotransmitter abnormalities in paediatric <i>POLG<\/i> disease"],"prefix":"10.1002","volume":"41","author":[{"given":"A.","family":"Papandreou","sequence":"first","affiliation":[{"name":"Molecular Neurosciences, Developmental Neurosciences Programme UCL Great Ormond Street Institute of Child Health 30 Guildford Street London WC1N 1EH UK"},{"name":"Department of Neurology Great Ormond Street Hospital for Children London UK"},{"name":"Genetics and Genomics Medicine Programme UCL Great Ormond Street Institute of Child Health London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Rahman","sequence":"additional","affiliation":[{"name":"Mitochondrial Research Group, Genetics and Genomic Medicine Programme UCL Great Ormond Street Institute of Child Health London UK"},{"name":"Metabolic Department Great Ormond Street Hospital for Children London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Fratter","sequence":"additional","affiliation":[{"name":"Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Ng","sequence":"additional","affiliation":[{"name":"Molecular Neurosciences, Developmental Neurosciences Programme UCL Great Ormond Street Institute of Child Health 30 Guildford Street London WC1N 1EH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Meyer","sequence":"additional","affiliation":[{"name":"Molecular Neurosciences, Developmental Neurosciences Programme UCL Great Ormond Street Institute of Child Health 30 Guildford Street London WC1N 1EH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. 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