Cerebral palsy (CP) is a disorder characterized by abnormal tone, posture and movement. The incidence of CP is 2–4 per 1,000 live births in the world. Prematurityand low birth weight are important risk factors for CP; however, multiple other factors have been associated with an increased risk for CP, including maternal infections and diseases, and abnormal birth process. In most cases of CP the initial injury to the brain occurs during early fetal brain development, later a brain area that is injured cannot function properly in the future. CP is classified clinically based on the predominant motor syndrome—spastic hemiplegia, spastic diplegia, spastic quadriplegia, ataxic and dyskinetic cerebral palsies. The diagnosis of CPis based on a combination of clinical history, use of standardized neuromotor assessment and findings on magnetic resonance imaging (MRI). If there is a suspicionof genetic or inborn metabolic disorders, screening tests should be provided additionally. Because CP is associated with multiple associated and secondary medical conditions, its management requires a multidisciplinary team approach
A novel insertion mutation in Atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching
