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Genetic diagnosis of basal ganglia disease in childhood.

Developmental medicine and child neurology - 1 Jun 2022

Baide-Mairena Heidy, Marti-Sánchez Laura, Marcé-Grau Anna, Cazurro-Gutiérrez Ana, Sanchez-Montanez Angel, Delgado Ignacio, Moreno-Galdó Antonio, Macaya-Ruiz Alfons, García-Arumí Elena, Pérez-Dueñas Belén

Abstract excerpt

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...

Topics

Autoimmune Diseases of the Nervous System
Basal Ganglia Diseases
Child
Child, Preschool
DNA, Mitochondrial
Female
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mitochondrial Diseases

Mutation

Nervous System Malformations

Prospective Studies

Source

Identifiers

PMID: 34988976
DOI: 10.1111/dmcn.15125

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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