Movement disorders clinical practice · 2024
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Komulainen-Ebrahim Jonna, Kangas Salla M, López-Martín Estrella, Feyma Timothy, Scaglia Fernando, Martínez-Delgado Beatriz, Kuismin Outi, Suo-Palosaari Maria, Carr Lucinda, Hinttala Reetta, Kurian Manju A, Uusimaa Johanna
Аннотация
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.
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.