Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene

Mov Disord Clin Pract. 2021 Jun 14;8(6):969-971. doi: 10.1002/mdc3.13260. eCollection 2021 Aug.

¹ Service of Neurology University Hospital "Marqués de Valdecilla (IDIVAL)", University of Cantabria, and "Centro de Investigación Biomédica en Red de Enfermedades, Neurodegenerativas (CIBERNED)" Santander Spain.
² Neurogenetics Laboratory, Functional and Translational Neurogenetics Unit, Department of Neuroscience, Germans Trias i Pujol Research Institute (IGTP) Universitat Autònoma de Barcelona-Can Ruti Campus Barcelona Spain.

No abstract available

Keywords: ATP13A2; Kufor‐Rakeb; ataxia; mutation; myoclonus.