title: Hot topic: PNKP mutations cause ataxia with oculomotor apraxia type 4.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, United Kingdom.|Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.
authors.forename: Bettina
authors.initials: B
authors.lastname: Balint
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, United Kingdom.
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000328:Adult; D001259:Ataxia; D045643:DNA Repair Enzymes / Q000235:genetics*; D005260:Female; D006801:Humans; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D011174:Portugal; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: C530380:PNKP protein, human; D017853:Phosphotransferases (Alcohol Group Acceptor); D045643:DNA Repair Enzymes