2026-08-29T14:07:54Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/250742025-12-18T13:00:39Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616

00925njm 22002777a 4500 dc Komulainen-Ebrahim, Jonna author Kangas, Salla M author Lopez-Martin, Estrella author Feyma, Timothy author Scaglia, Fernando author Martinez-Delgado, Beatriz author Kuismin, Outi author Suo-Palosaari, Maria author Carr, Lucinda author Hinttala, Reetta author Kurian, Manju A author Uusimaa, Johanna author 2024-06 Background: Genetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 (nucleus accumbens-associated 1) missense variant was described in a patient cohort including one patient with a combined mitochondrial oxidative phosphorylation (OXPHOS) deficiency. Objectives: The objective is to characterize the movement disorder in affected patients with the recurrent c.892C>T NACC1 variant and study the NACC1 protein and mitochondrial function at the cellular level. Methods: The movement disorder was analyzed on four patients with the NACC1 c.892C>T (p.Arg298Trp) variant. Studies on NACC1 protein and mitochondrial function were performed on patient-derived fibroblasts. Results: All patients had a generalized hyperkinetic movement disorder with chorea and dystonia, which occurred cyclically and during sleep. Complex I was found altered, whereas the other OXPHOS enzymes and the mitochondria network seemed intact in one patient. Conclusions: The movement disorder is a prominent feature of NACC1-related disease. Mov Disord Clin Pract. 2024 Jun;11(6):708-715. 10.1002/mdc3.14051 2330-1619 Movement disorders clinical practice 38698576 https://hdl.handle.net/20.500.12105/25074 NACC1 Cyclic Hyperkinetic Movement disorder Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant