Congratulations to Dr. Michael Okun on the publication of “Family with BCL11B Related Dystonia and Movement Disorders, ” which apears in the February issue of Movement Disorders Clinical Practice.
BCL11B-related disorder (MIM#618092) is a rare neurodevelopmental disorder characterized by intellectual disability, autism spectrum disorder (ASD), immune deficiencies, and dysmorphic features. BCL11B is associated with the patterning and structuring of striatal medium spinal neuron (MSN) pathways during fetal development, which are integral to movement.1 Few cases have described abnormal movements but BCL11B-related disorders can present as distinctive movement disorders, particularly dystonia.2-4 We report a family with a paternally-inherited likely pathogenic heterozygous missense variant in BCL11B (c.2422 T>C, p.Cys808Arg) associated with a prominent movement disorder phenotype.