Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

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 p

SUBMITTER: Komulainen-Ebrahim J 

PROVIDER: S-EPMC11145100 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature