Topic: Optic atrophy type 1

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