2026-08-29T14:07:48Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/250742025-12-18T13:00:39Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616
Repisalud
author
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
funder
Stiftelsen Alma och K. A. Snellman Säätiö
funder
Finnish Cultural Foundation
funder
North Ostrobothnia Regional Fund
funder
Instituto de Salud Carlos III
funder
University of Oulu (Finlandia)
funder
Finlands Akademi (Finlandia)
funder
National Institute for Health Research (Reino Unido)
funder
Medical Research Council (Reino Unido)
funder
Oulu University Hospital (Finlandia)
funder
PTC Therapeutics
funder
Astellas Pharmaceuticals
funder
National Institutes of Health (Estados Unidos)
2024-10-09T12:17:14Z
2024-10-09T12:17:14Z
2024-06
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
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.
eng
NACC1
Cyclic
Hyperkinetic
Movement disorder
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant
research article
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