{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T23:00:31Z","timestamp":1771455631229,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T00:00:00Z","timestamp":1675900800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2023,2,9]]},"abstract":"<jats:p>We describe a 38-year-old male patient with intellectual disability and progressive motor symptoms who lacked an etiological diagnosis for many years. Finally, clinical exome sequencing showed a likely pathogenic variant of the ARX gene suggesting Partington syndrome. His main symptoms were mild intellectual disability, severe kinetic apraxia, resting and action tremor, dysarthria, tonic pupils, constant dystonia of one upper limb, and focal dystonia in different parts of the body, axial rigidity, spasticity, epilepsy, and poor sleep. Another likely pathogenic gene variant was observed in the PKP2 gene and is in accordance with the observed early cardiomyopathy. Single-photon emission computed tomography imaging of dopamine transporters showed a reduced signal in the basal ganglia consistent with Parkinson\u2019s disease. Therapies with a variable number of drugs, including antiparkinsonian medications, have yielded poor responses. Our case report extends the picture of the adult phenotype of Partington syndrome.<\/jats:p>","DOI":"10.1155\/2023\/3636748","type":"journal-article","created":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T19:35:09Z","timestamp":1675971309000},"page":"1-5","source":"Crossref","is-referenced-by-count":1,"title":["Manifestations of Intellectual Disability, Dystonia, and Parkinson\u2019s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)"],"prefix":"10.1155","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2571-7118","authenticated-orcid":true,"given":"Maria","family":"Arvio","sequence":"first","affiliation":[{"name":"Wellbeing Service County of P\u00e4ij\u00e4t-H\u00e4me, Lahti, Finland"},{"name":"PEDEGO, Oulu University Hospital, Oulu, Finland"},{"name":"Department of Child Neurology and General Practice, Turku University and Turku University Central Hospital, Turku, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaana","family":"L\u00e4hdetie","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and General Practice, Turku University and Turku University Central Hospital, Turku, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannu","family":"Koivu","sequence":"additional","affiliation":[{"name":"Wellbeing Service County of P\u00e4ij\u00e4t-H\u00e4me, Lahti, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antti","family":"Sohlberg","sequence":"additional","affiliation":[{"name":"Wellbeing Service County of P\u00e4ij\u00e4t-H\u00e4me, Lahti, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1621-8752","authenticated-orcid":true,"given":"Eero","family":"Pekkonen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Helsinki University Hospital and Department of Clinical Neurosciences (Neurology) University of Helsinki, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2788.2003.00447.x"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10630"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-25"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.03.009"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10714"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10629"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00268.x"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02268-1"},{"key":"9","article-title":"Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer\u2019s Disease and the Aging Brain, and the Department of Neurology","volume-title":"Columbia University Medical Center","author":"I. 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