1 results match your criteria: "Department of Clinical and Movement Neurosciences Queen Square London United Kingdom.[Affiliation]"
Background: Biallelic mutations in were identified as the cause of Kufor-Rakeb disease, a pallido-pyramidal syndrome characterized by young-onset dystonia-parkinsonism with vertical supranuclear gaze palsy, spasticity, and cognitive decline. The phenotypic spectrum has broadened since, but predominantly psychiatric or behavioral manifestations have not been highlighted.
Cases: Here we report the clinical, radiological, and genetic findings in 2 unrelated patients with mutations.