{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:41:53Z","timestamp":1781613713728,"version":"3.54.5"},"reference-count":23,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous ADPRHL2 variant. We conducted a systematic literature search and data extraction procedure following the Preferred Reporting Items for Systematic Review and Meta-Analysis 2020 statement in terms of patients with ADPRHL2 variants, from 2018 up to 3 February, 2023. In total, 12 articles describing 47 patients were included in the final analysis. Median age at symptom onset was 2 (0.7\u201325) years, with the most common presenting symptoms being gait problems (n\u2009=\u200919, 40.4%), seizures (n\u2009=\u200916, 34%), ataxia (n\u2009=\u200913, 27.6%), and weakness (n\u2009=\u200910, 21.2%). Triggering factors (28\/47; 59.5%) and regression (28\/43; 60.4%), axonal polyneuropathy (9\/23; 39.1%), and cerebral and cerebellar atrophy with white matter changes (28\/36; 77.7%) were the other clues. The fatality rate and median age of death were 44.6% (n\u2009=\u200921) and 7 (2\u201334) years, respectively. ADPRHL2 variants should be considered in the context of episodic, stress-induced pediatric and adult-onset movement disorders and seizures.<\/jats:p>","DOI":"10.1055\/s-0044-1779618","type":"journal-article","created":{"date-parts":[[2024,2,17]],"date-time":"2024-02-17T00:19:15Z","timestamp":1708129155000},"page":"156-165","source":"Crossref","is-referenced-by-count":3,"title":["Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature"],"prefix":"10.1055","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0908-3335","authenticated-orcid":false,"given":"Sibel","family":"\u00d6z Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9294-4305","authenticated-orcid":false,"given":"Dilek","family":"Yaln\u0131zo\u011flu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin \u00d6zlem","family":"\u015eimsek Kiper","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0223-9336","authenticated-orcid":false,"given":"Rah\u015fan","family":"G\u00f6\u00e7men","sequence":"additional","affiliation":[{"name":"Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2368-5797","authenticated-orcid":false,"given":"Merve","family":"So\u011fukp\u0131nar","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6577-5542","authenticated-orcid":false,"given":"G\u00fclen Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1813-275X","authenticated-orcid":false,"given":"G\u00f6knur","family":"Halilo\u011flu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, 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