title: A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.
abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative condition. Major clinical features include progressive dystonia, pigmentary retinopathy, spasticity, and cognitive decline. The typical MRI sign of the disease, known as "eye-of-the-tiger", is what makes differential diagnosis possible. We here describe a 16-year-old male patient with PKAN presenting with severe and sustained jaw-opening dystonia which may be due to heterogeneous etiologies showing poor response to treatment. Herein, long-term follow-up and genetic results of a PKAN case who experienced severe jaw-opening dystonia are presented and discussed.
authors.affiliation: Istanbul University, Istanbul Medical Faculty, Department of Neurology, Division of Child Neurology, Istanbul, Turkey. Electronic address: yapicizuhal@gmail.com.
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Yapici
authors.affiliation: Istanbul University, Institute of Experimental Medicine (DETAE), Department of Genetics, Istanbul, Turkey.
authors.forename: Nihan Hande
authors.initials: NH
authors.lastname: Akcakaya
authors.affiliation: Istanbul University, Istanbul Medical Faculty, Department of Neurology, Division of Child Neurology, Istanbul, Turkey.
authors.forename: Pinar
authors.initials: P
authors.lastname: Tekturk
authors.affiliation: Istanbul University, Institute of Experimental Medicine (DETAE), Department of Genetics, Istanbul, Turkey.
authors.forename: Sibel Aylin Ugur
authors.initials: SA
authors.lastname: Iseri
authors.affiliation: Istanbul University, Institute of Experimental Medicine (DETAE), Department of Genetics, Istanbul, Turkey.
authors.forename: Ugur
authors.initials: U
authors.lastname: Ozbek
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009068:Movement / Q000502:physiology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D012720:Severity of Illness Index; D014741:Video Recording; D055815:Young Adult
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase
keywords: Compound heterozygousity; Jaw-opening dystonia; PANK2; Pantothenate kinase-associated neurodegeneration; “Eye-of-the-tiger”