ons in the NKX6-2 gene is a multisystem disorder characterized by spastic ataxia with hypomyelination on MRI. Some individuals with a mutation in the NKX6-2 gene also have associated seizures, dystonia or global psychomotor delay.
This website was created to share and collect information about the clinical spectrum, management options and research projects in order to gather more knowledge and provide better treatment of patients with mutations in the NKX6-2 gene.
Viorica Chelban, MD, Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK, v.chelban@ucl.ac.uk
Fowzan S Alkuraya, MD, Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa