Molecular causes of rare neurological condition in children revealed

A new study has identified the molecular defects underlying a complex developmental brain condition in children. The team, led by UCL and including Imperial College London researchers, investigated the role of a specific regulatory protein in the brain known as acyl-CoA-binding domain-containing protein 6, or ACBD6. Up until now, the implication of defects in this protein have been unknown but the new research uncovered evidence that ACBD6 plays an essential part in maintaining a healthy nervous system. The new study, published in the journal Brain , revealed the role of malfunctioning ACBD6 in an ultra-rare condition in children, known as Autosomal Recessive ACBD6-related disorder. This is characterised by delays in the development of cognitive and motor skills, and is associated with dystonia and parkinsonism. The discovery was made possible through the use of advanced genomic technologies and extensive global data sharing, with 89 clinicians and scientists from 72 institutes involved worldwide. Multifaceted approach.