{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T07:04:13Z","timestamp":1790665453815,"version":"4.1.0"},"reference-count":92,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2020,9,5]],"date-time":"2020-09-05T00:00:00Z","timestamp":1599264000000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Parkinson\u2019s"},{"name":"Spanish grant \u2018Ayudas a los Grupos y Unidades de Excelencia Cient\u00edfica de la Regi\u00f3n de Murcia\u2019"},{"name":"Fundaci\u00f3n S\u00e9neca-Agencia de Ciencia y Tecnolog\u00eda de la Regi\u00f3n de Murcia","award":["19893\/GERM\/15"],"award-info":[{"award-number":["19893\/GERM\/15"]}]},{"name":"Programa de Apoyo a la Investigaci\u00f3n 2014","award":["20866\/PI\/18"],"award-info":[{"award-number":["20866\/PI\/18"]}]},{"DOI":"10.13039\/501100017510","name":"UK Dementia Research Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100017510","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000265","name":"UK Medical Research Council","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100017506","name":"Alzheimer\u2019s Society","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100017506","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002283","name":"Alzheimer\u2019s Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002283","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Tenure-track Clinician Scientist Fellowship","award":["MR\/N008324\/1"],"award-info":[{"award-number":["MR\/N008324\/1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, including anxiety, depression, obsessive-compulsive disorder and schizophrenia, are frequent in patients with dystonia. While mutations in a fast-growing number of genes have been linked to Mendelian forms of dystonia, the cellular, anatomical, and molecular basis remains unknown for most genetic forms of dystonia, as does its genetic and biological relationship to neuropsychiatric disorders. Here we applied an unbiased systems-biology approach to explore the cellular specificity of all currently known dystonia-associated genes, predict their functional relationships, and test whether dystonia and neuropsychiatric disorders share a genetic relationship. To determine the cellular specificity of dystonia-associated genes in the brain, single-nuclear transcriptomic data derived from mouse brain was used together with expression-weighted cell-type enrichment. To identify functional relationships among dystonia-associated genes, we determined the enrichment of these genes in co-expression networks constructed from 10 human brain regions. Stratified linkage-disequilibrium score regression was used to test whether co-expression modules enriched for dystonia-associated genes significantly contribute to the heritability of anxiety, major depressive disorder, obsessive-compulsive disorder, schizophrenia, and Parkinson\u2019s disease. Dystonia-associated genes were significantly enriched in adult nigral dopaminergic neurons and striatal medium spiny neurons. Furthermore, 4 of 220 gene co-expression modules tested were significantly enriched for the dystonia-associated genes. The identified modules were derived from the substantia nigra, putamen, frontal cortex, and white matter, and were all significantly enriched for genes associated with synaptic function. Finally, we demonstrate significant enrichments of the heritability of major depressive disorder, obsessive-compulsive disorder and schizophrenia within the putamen, frontal cortex and white matter modules, and nominal enrichment of the heritability of Parkinson\u2019s disease within the substantia nigra module. In conclusion, multiple dystonia-associated genes interact and contribute to pathogenesis likely through dysregulation of synaptic signalling in striatal medium spiny neurons, adult nigral dopaminergic neurons and frontal cortical neurons. Furthermore, the enrichment of the heritability of psychiatric disorders in the co-expression modules enriched for dystonia-associated genes indicates that psychiatric symptoms associated with dystonia are likely to be intrinsic to its pathophysiology.<\/jats:p>","DOI":"10.1093\/brain\/awaa217","type":"journal-article","created":{"date-parts":[[2020,6,17]],"date-time":"2020-06-17T07:18:42Z","timestamp":1592378322000},"page":"2771-2787","source":"Crossref","is-referenced-by-count":69,"title":["Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders"],"prefix":"10.1093","volume":"143","author":[{"given":"Niccol\u00f2 E","family":"Mencacci","sequence":"first","affiliation":[{"name":"Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6470-7919","authenticated-orcid":false,"given":"Regina 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro","family":"S\u00e1nchez-Ferrer","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology-A, Faculty of Biology, Regional Campus of International Excellence \u2018Campus Mare Nostrum\u2019, University of Murcia, Campus Espinardo, E-30100, Murcia, Spain"},{"name":"Murcia Biomedical Research Institute (IMIB-Arrixaca), 30120, Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viola","family":"Volpato","sequence":"additional","affiliation":[{"name":"UK Dementia Research Institute at Cardiff University, Hadyn Ellis Building, Cardiff, CF24 4HQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"UK Brain Expression Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan 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London, UK"},{"name":"Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,8,21]]},"reference":[{"key":"2021081016001847500_awaa217-B1","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1,092 human genomes","volume":"491","author":"Abecasis","year":"2012","journal-title":"Nature"},{"key":"2021081016001847500_awaa217-B2","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1002\/mds.25475","article-title":"Phenomenology and classification of dystonia: a consensus update","volume":"28","author":"Albanese","year":"2013","journal-title":"Mov Disord"},{"key":"2021081016001847500_awaa217-B3","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/nature09298","article-title":"Integrating common and rare genetic 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