<i>CNTNAP1</i> mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

Abstract

<i>CNTNAP1</i> mutations have recently been linked to patients with arthrogryposis multiplex congenita. However, we show that arthrogryposis is not an obligate feature. <i>CNTNAP1</i>-related disorders are foremost severe hypomyelinating disorders of the CNS and the peripheral nervous system. The pathology is partly explained by the involvement of CNTNAP1 in the proper formation and preservation of paranodal junctions and partly by the assumed role of CNTNAP1 as a key regulator in the development of the cerebral cortex.