title: Novel compound heterozygous mutations in the pantothenate kinase 2 gene in a korean patient with atypical pantothenate kinase associated neurodegeneration.
abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder that is characterized by mutations in the pantothenate kinase 2 gene (PANK2) and typical magnetic resonance imaging findings. We report a case of atypical PKAN presenting with generalized dystonia. Our patient had compound heterozygous mutations in the PANK2 gene, including mutation in exon 3 (p.D268G) and exon 4 (p.R330P). To our knowledge, this patient is the first to have the p.R330P mutation and the second to have the p.D268G mutation.
authors.affiliation: Department of Neurology, Gachon University Gil Hospital, Incheon, Korea.
authors.forename: Sung-Hyouk
authors.initials: SH
authors.lastname: Kim
authors.affiliation: Department of Neurology, Gachon University Gil Hospital, Incheon, Korea.
authors.forename: Young-Hee
authors.initials: YH
authors.lastname: Sung
authors.affiliation: Department of Neurology, Gachon University Gil Hospital, Incheon, Korea.
authors.forename: Kee-Hyung
authors.initials: KH
authors.lastname: Park
authors.affiliation: Department of Neurology, Gachon University Gil Hospital, Incheon, Korea.
authors.forename: Yeung-Bae
authors.initials: YB
authors.lastname: Lee
authors.affiliation: Department of Neurology, Gachon University Gil Hospital, Incheon, Korea.
authors.forename: Hyeon-Mi
authors.initials: HM
authors.lastname: Park
authors.affiliation: Department of Neurology, Gachon University Gil Hospital, Incheon, Korea.
authors.forename: Dong Jin
authors.initials: DJ
authors.lastname: Shin
authors.affiliation: Medical Genetics Clinic, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
keywords: Dystonia; Pantothenate kinase 2; Pantothenate kinase-associated neurodegeneration