Ciliopathy Joubert Syndrome and Neural Development

Abstract: Joubert syndrome is a kind of autosomal recessive genetic neural development disorder， which is characterized by ataxia， hypotonia， irregular respiratory pattern， abnormal eye movement， developmental delay and cognitive defects. These main clinical signs are variably complicated by multiorgan defects. The typical imaging feature of Joubert syndrome is “molar tooth sign”， a complex malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation affecting the corticospinal tract and superior cerebellar peduncles.However， the underlying mechanism of the neural circuit defects in Joubert syndrome is still obscure. Up to date，more than 20 genes have been found to be mutated in Joubert syndrome patients. Interestingly， the proteins encoded by these genes are closely related to the primary cilium or its apparatus， making Joubert syndrome belong to a group of diseases called ciliopathies. In this review， we focus on discussing the relationship between Joubert syndrome and cilium and summarizing the potential roles of causative genes of Joubert syndrome in neural development.

CSTR: 32200.14.cjcb.2016.11.0014