Topic: Christianson syndrome

In many neurological disorders, sleep disturbances and intellectual disability are strongly associated.Therefore, by studying these types of disorders, we can attempt to elucidate molecular and cellularmechanisms with broad relevance to brain function and disease. Christianson syndrome (CS) is anexample of a monogenic condition involving X-linked intellectual disability and sleep disturbances.The lack of treatment options for these children is directly related to our poor understanding of themechanisms underlying the disease. CS arises from mutations in the SLC9A6 gene which encodes theendosom

Mutations in Na+/H+ exchanger NHE6 (SLC9A6) underlie several X-linked developmental brain disorders including the neurodegenerative disease Christianson Syndrome (CS). Symptoms include cerebellar atrophy, non-verbal status, seizures and severe cognitive disabilities. NHE6 deletion or loss-of-function mutations lead to attenuated endosomal signaling, dysregulated synaptic transmission and abnormal dendritic branching in vitro and in vivo [1]. In this project, we aim to investigate the localization of wildtype- and CS-associated NHE6 variants in primary neurons, the importance of NHE6 in recepto

Christianson syndrome (CS) is an X-linked monogenic neurodevelopmental/neurodegenerative disorder arising from loss of function mutations in the endosomal pH regulator, Na+, K+/H+ exchanger isoform 6 (NHE6) and is estimated to afflict 1 in 16,000–100,000 people worldwide. In addition to significant limitations in cognitive and adaptive abilities, all affected males have ataxia. Mitochondrial dysfunction is increasingly being recognized as an important factor contributing to the pathogenesis of ataxia. In particular, dysregulated mitochondrial fusion and fission events can now be regarded as pl

Ataxia is a prominent symptom of the X-linked neurodevelopmental/neurodegenerative disorder Christianson Syndrome (CS). A hallmark of ataxia disorders is the death of Purkinje Cells where Purkinje Cell cerebellar location can influence their vulnerability. Purkinje Cells express certain molecules in a highly patterned manner across the cerebellum, the most studied being aldolase C/zebrin-II (zebrin), expressed in parasagittal stripes across the cerebellum. We investigated if either type of Purkinje Cell was more vulnerable in CS using immunohistochemistry, looking specifically at motor lobules