A new study published in Developmental Medicine & Child Neurology uncovered a number of genetic causes of basal ganglia diseases.
Basal ganglia are deep grey matter structures in the brain involved in the control of posture and voluntary movements, cognition, behaviour, and motivational states. Several conditions are known to affect basal ganglia during childhood, but many questions remain.
In a study that included 62 children with basal ganglia diseases who were followed for two years, investigators identified multiple genetic aetiologies including mitochondrial diseases (57%), Aicardi–Goutières syndrome (20%), and single-gene causes of dystonia and/or epilepsy (17%) mimicking Leigh syndrome. Radiological abnormalities included T2-hyperintense lesions (n=26) and lesions caused by calcium or manganese mineralisation (n=9).
The researchers identified three clusters: the pallidal, neostriatal, and striatal, plus the last including mtDNA defects in the oxidative phosphorylation system with prominent brain atrophy. Mitochondrial biomarkers showed poor sensitivity and specificity in children with mitochondrial disease, whereas an interferon signature was observed in all patients with Aicardi–Goutières syndrome.
Radiological imaging tests also revealed several characteristics in patients that could help lead to an earlier diagnosis of basal ganglia diseases.
Source: Wiley
