Delineation of <i>ADPRHL2</i> Variants: Report of Two New Patients with Review of the Literature


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Yildiz S. O., Yalnizoglu D., ŞİMŞEK KİPER P. Ö., GÖÇMEN R., Sogukpinar M., Utine G. E., ...Daha Fazla

NEUROPEDIATRICS, sa.02, ss.117-123, 2024 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Derleme
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1055/s-0044-1779618
  • Dergi Adı: NEUROPEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS
  • Sayfa Sayıları: ss.117-123
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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 (0.7-25) years, with the most common presenting symptoms being gait problems ( n = 19, 40.4%), seizures ( n = 16, 34%), ataxia ( n = 13, 27.6%), and weakness ( n = 10, 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 = 21) and 7 (2-34) years, respectively. ADPRHL2 variants should be considered in the context of episodic, stress-induced pediatric and adult-onset movement disorders and seizures.