NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism

Abstract

The NR4A2/NURR1 gene (MIM*601828) has recently been associated with autosomal-dominant early-onset dystonia-parkinsonism with intellectual disability.1 NR4A2 codifies for a nuclear transcription factor and is expressed mainly in the substantia nigra, ventral tegmental area, and limbic areas.2 To date, 14 different alterations in NR4A2 have been described associated with various clinical phenotypes, mainly with neurodevelopment disorders (table e-1, links.lww.com/NXG/A371). We describe here an interesting case suffering a persistent dystonia-parkinsonism syndrome (DPS) with motor tics, which expands the clinical phenotype of NR4A2-associated DPS.