Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report

OBJECTIVES: To report a novel likely pathogenic variant in the SERAC1 gene associated with early adult-onset parkinsonism and progressive dystonia. METHODS: Clinical, biochemical, and imaging assessments were performed on 2 affected adult brothers with a genetically unsolved progressive neurologic d...

Descripción completa

Detalles Bibliográficos
Autores principales: Ashton, Catherine, Davis, Mark, Laing, Nigel, Ravenscroft, Gianina, Lamont, Philipa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117696/
https://www.ncbi.nlm.nih.gov/pubmed/37090937
http://dx.doi.org/10.1212/NXG.0000000000200067

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117696/
https://www.ncbi.nlm.nih.gov/pubmed/37090937
http://dx.doi.org/10.1212/NXG.0000000000200067

Ejemplares similares