Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

Cerebral palsy (CP), the most common physical disability of childhood, is a group of neurodevelopmental disorders of movement and posture often associated with cognitive and behavioral disturbances. Although CP has been attributed to several factors, the cause of most cases remains unknown. Birth asphyxia, long considered the most frequent risk factor, accounts for <10% of cases, whereas strong evidence suggests genetic abnormalities play a major role. Our paper describes a novel CP syndrome caused by a homozygous deletion of the AP4E1 gene and the proposal of 3 additional candidate genes from the same gene family as responsible for a subset of CP cases. (By Dr. Andrés Moreno De Luca, http://jmg.bmj.com/content/early/2010/10/23/jmg.2010.082263.abstract?papetoc )