Heidy Baide-Mairena, Laura Marti-Sánchez, Anna Marcé-Grau, Ana Cazurro-Gutiérrez, Angel Sanchez-Montanez, Ignacio Delgado, Antonio Moreno-Galdó, Alfons Macaya-Ruiz, Elena García-Arumí, Belén Pérez-Dueñas
AIM: To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology, and propose a diagnostic algorithm for early recognition. METHOD: Children with basal ganglia disease were recruited in a 2-year prospective multicentre study for clinical, biomarker, and genetic studies. Radiological pattern recognition was examined by hierarchical clustering analysis. RESULTS: We identified 22 genetic conditions in 30 out of 62 paediatric patients (37 males, 25 females; mean age at onset 2y, SD 3; range 0-10y; mean age at assessment 11y, range 1-25y) through gene panels (n=11), whole-exome sequencing (n=13), and mitochondrial DNA (mtDNA) sequencing (n=6)...
June 2022: Developmental Medicine and Child Neurology