{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T04:46:06Z","timestamp":1791866766715,"version":"4.3.4"},"reference-count":0,"publisher":"Ovid Technologies (Wolters Kluwer Health)","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Dystonia\u2013deafness syndrome (DDS) is a rare neurogenetic disorder with congenital sensorineural hearing loss and progressive dystonia linked to\n                    <jats:italic toggle=\"yes\">ACTB<\/jats:italic>\n                    mutations. A 22-year-old man with congenital deafness and speech impairment presented with adolescent-onset tremors evolving to generalized dystonia, titubation, and gait disturbances. Magnetic resonance imaging of the brain was unremarkable. Fluorodeoxyglucose\u2013positron emission tomography showed basal ganglia hypometabolism, with severely reduced uptake in the right putamen and caudate on Technetium-99m labeled TRODAT-1 Single Photon Emission Computed Tomography (TRODAT SPECT) imaging. A heterozygous pathogenic missense variant in\n                    <jats:italic toggle=\"yes\">ACTB<\/jats:italic>\n                    gene (c.547C&gt;T; p.Arg183Trp) with an additional heterozygous variant in\n                    <jats:italic toggle=\"yes\">VPS16<\/jats:italic>\n                    (c.1612C&gt;A; p.Leu538Met) was identified. The\n                    <jats:italic toggle=\"yes\">ACTB<\/jats:italic>\n                    variant explains core DDS features, whereas the coexisting\n                    <jats:italic toggle=\"yes\">VPS16<\/jats:italic>\n                    variant represents an additional finding of uncertain clinical significance. This case highlights the functional imaging abnormalities in\n                    <jats:italic toggle=\"yes\">ACTB<\/jats:italic>\n                    -related DDS and emphasizes the value of multimodal imaging in the evaluation of genetically confirmed complex dystonia.\n                  <\/jats:p>","DOI":"10.4103\/aian.aian_334_26","type":"journal-article","created":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T04:00:56Z","timestamp":1791864056000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["ACTB-Related Dystonia\u2013Deafness Syndrome with Functional Imaging Correlates: A Case Report"],"prefix":"10.4103","author":[{"given":"Dolly","family":"Agrawal","sequence":"first","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohit","family":"Kushwah","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemant","family":"Luniwal","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarbesh","family":"Tiwari","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepanksha","family":"Datta","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samhita","family":"Panda","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,10,12]]},"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_334_26","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T04:00:57Z","timestamp":1791864057000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_334_26"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,12]]},"references-count":0,"URL":"https:\/\/doi.org\/10.4103\/aian.aian_334_26","relation":{},"ISSN":["0972-2327","1998-3549"],"issn-type":[{"value":"0972-2327","type":"print"},{"value":"1998-3549","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,12]]},"assertion":[{"value":"2026-03-22","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-06","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}