Artículo
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism
Autor/es | Jesús, Silvia
Hinarejos, Isabel Carrillo, Fátima Martínez Rubio, Dolores Macías-García, Daniel Sánchez-Monteagudo, Ana Adarmes, Astrid Mir Rivera, Pablo Espinós, Carmen |
Departamento | Universidad de Sevilla. Departamento de Medicina |
Fecha de publicación | 2021 |
Fecha de depósito | 2022-10-07 |
Publicado en |
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Resumen | 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 ... 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. |
Identificador del proyecto | PI16/01575
PI18/01898 PI18/00147 PI19/ 01576 SAF2007-60700 CVI-02526 CTS-7685 PI-0459- 2018 PE-0210-2018 PE-0186-2019 |
Cita | Jesús, S., Hinarejos, I., Carrillo, F., Martínez-Rubio, D., Macías-García, D., Sánchez-Monteagudo, A.,...,Espinós, C. (2021). NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism. Neurology. Genetics, 7 (1). https://doi.org/10.1212/NXG.0000000000000543. |
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