Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation

Parkinsonism Relat Disord. 2015 Nov;21(11):1378-80. doi: 10.1016/j.parkreldis.2015.09.036. Epub 2015 Sep 25.

¹ Department of Neurology, King's College Hospital NHS Foundation Trust, London, UK; Queen Elizabeth Hospital Woolwich, Lewisham & Greenwich NHS Trust, UK.
² IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
³ Department of Neuroradiology, King's College Hospital NHS Foundation Trust, London, UK.
⁴ IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address: alessio.difonzo@policlinico.mi.it.

No abstract available

Keywords: ATP13A2; Dystonia; Genetics; Kufor-Rakeb; PARK9; Parkinson's disease.

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