{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T22:01:48Z","timestamp":1771106508969,"version":"3.50.1"},"reference-count":3,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T00:00:00Z","timestamp":1762300800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T00:00:00Z","timestamp":1762300800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We present the case of a 61\u2010year\u2010old woman with late\u2010onset hyperkinetic movement disorder, characterized by involuntary, choreiform movements predominantly affecting the right limbs. Symptoms began at age 60 and were exacerbated by emotional stress. Neurological and neurocognitive evaluations were unremarkable, and extensive diagnostic workup, including Magnetic Resonance Imaging (MRI), Electroencephalogram (EEG), Positron Emission Tomography with Fluorodeoxyglucose (FDG\u2010PET) and genetic testing for common movement disorders, was largely negative. Notably, a heterozygous pathogenic variant (c.736C&gt;T; p.Arg246Trp) in the\n                    <jats:italic>GLRA1<\/jats:italic>\n                    gene was identified via exome sequencing. This gene encodes a glycine receptor subunit associated with Hyperekplexia (HPX), a rare neurometabolic disorder typically presenting in infancy with exaggerated startle responses. Although our patient did not show a classic HPX phenotype, the clinical picture included emotionally triggered motor symptoms and a positive response to clonazepam, a hallmark of HPX treatment. Clonazepam monotherapy at low doses led to sustained symptom control, while other treatments were less effective. Family history revealed similar late\u2010onset symptoms in the patient's father, though undocumented. This case expands the phenotypic spectrum of HPX and suggests that atypical presentations may be misclassified as functional neurological disorders. It underscores the importance of genetic evaluation in unexplained adult\u2010onset movement disorders and raises the possibility of underrecognized late\u2010onset HPX variants in clinical practice.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64297","type":"journal-article","created":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T06:50:28Z","timestamp":1762411828000},"page":"770-771","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Variant in\n                    <scp>\n                      <i>GLRA1<\/i>\n                    <\/scp>\n                    Associated With Emotional Stimulus\u2010Sensitive Hemichoreic Movements"],"prefix":"10.1002","volume":"200","author":[{"given":"Martina","family":"Giuntini","sequence":"first","affiliation":[{"name":"Unit of Neurology San Luca Hospital  Lucca Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Picchi","sequence":"additional","affiliation":[{"name":"Unit of Primary Care, Psychology San Luca Hospital  Lucca Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianfranco","family":"Cafforio","sequence":"additional","affiliation":[{"name":"Unit of Neurology San Luca Hospital  Lucca Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosanna","family":"Trovato","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases IRCCS Fondazione Stella Maris  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases IRCCS Fondazione Stella Maris  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Vista","sequence":"additional","affiliation":[{"name":"Unit of Neurology San Luca Hospital  Lucca Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Orsucci","sequence":"additional","affiliation":[{"name":"Unit of Neurology San Luca Hospital  Lucca Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurot.2025.e00612"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000259"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3988\/jcn.2020.16.2.230"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64297","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.64297","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64297","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T21:15:01Z","timestamp":1771103701000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64297"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,5]]},"references-count":3,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1002\/ajmg.a.64297"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64297","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,5]]},"assertion":[{"value":"2025-08-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}