Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay


Kirimtay K., Temizci B., GÜLTEKİN M., Yapici Z. , Karabay Korkmaz A.

BRAIN RESEARCH, vol.1750, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 1750
  • Publication Date: 2021
  • Doi Number: 10.1016/j.brainres.2020.147167
  • Title of Journal : BRAIN RESEARCH

Abstract

Background: Kufor-Rakeb Syndrome (KRS) is an autosomal recessive disease characterized by Parkinsonism, pyramidal signs, dementia, and supranuclear gaze palsy. KRS is caused by mutations in ATP13A2 producing a transmembrane protein responsible for the regulation of intracellular inorganic cations.