Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Mov Disord Clin Pract
; 11(6): 708-715, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38698576
ABSTRACT
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.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Hipercinese
Limite:
Child
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Female
/
Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article