Neurobehavioral development in Joubert syndrome.

Speech difficulties in Joubert syndrome

Introduction: "Joubert syndrome" was first introduced in1969. This syndrome is a rare genetic disease with autosomal dominantpattern. Hypotonia, ataxia and motor delay of the disease known as clinical manifestations. In the few reports of this syndrome, mostly functional and structural components studied and radiographic images such as speech and language developmental delay symptoms has been l...

Cerebellar cognitive affective syndrome: insights from Joubert syndrome

Background Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Patients with JS often face multiple cognitive challenges, but the neuropsychological profile of this condit...

Un syndrome « Furoculose de la truite»

Joubert Syndrome in Three Children in A Family: A Case Series

Joubert syndrome (JS) is a rare autosomal recessive central nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features. Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, develop...

Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice.

Joubert syndrome is an autosomal recessive disorder characterized by congenital malformation of the cerebellum and brainstem, with abnormal decussation in the brain. Mutations in the Abelson helper integration site 1 gene, which encodes the protein AHI1, have been shown to cause Joubert syndrome. In this study, we found that mouse Ahi1 formed a stable complex with huntingtin-associated protein ...