作者
Jonna Komulainen‐Ebrahim, Salla M Kangas, Estrella López‐Martín, Timothy Feyma, Fernando Scaglia, Beatriz Martínez‐Delgado, Outi Kuismin, Maria Suo‐Palosaari, Lucinda Carr, Reetta Hinttala, Manju A Kurian, Johanna Uusimaa
发表日期
2024/6
期刊
Movement Disorders Clinical Practice
卷号
11
期号
6
页码范围
708-715
出版商
John Wiley & Sons, Inc.
简介
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 …
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J Komulainen‐Ebrahim, SM Kangas, E López‐Martín… - Movement Disorders Clinical Practice, 2024