title: Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration.
abstract: A 43-year-old male patient suddenly developed freezing of gait (FOG) when making a first step, turning, or passing through a narrow path. Dystonic plantar flexion of his left foot always accompanied with FOG. He could walk without FOG when stepping on visual cues. Brain magnetic resonance imaging study showed typical "eye of the tiger" sign in the globus pallidus. He had heterozygous mutations in the exons 3 and 4 in the PANK2 gene. His FOG dramatically responded to the anticholinergic treatment. We report the first instance of a patient with genetically confirmed pantothenate kinase associated neurodegeneration showing typical FOG that responded to anticholinergic treatment.
authors.affiliation: Department of Neurology, Youngdong Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Chul Hyoung
authors.initials: CH
authors.lastname: Lyoo
authors.forename: Holger
authors.initials: H
authors.lastname: Prokisch
authors.forename: Thomas
authors.initials: T
authors.lastname: Meitinger
authors.forename: Seung Yeob
authors.initials: SY
authors.lastname: Lee
authors.forename: Do Hyoun
authors.initials: DH
authors.lastname: Kim
authors.forename: Myung Sik
authors.initials: MS
authors.lastname: Lee
mesh_terms: D000328:Adult; D018680:Cholinergic Antagonists / Q000627:therapeutic use*; D020233:Gait Disorders, Neurologic / Q000188:drug therapy* / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications / Q000188:drug therapy*
chemical_list: D018680:Cholinergic Antagonists