title: A patient with pantothenate kinase-associated neurodegeneration and supranuclear gaze palsy.
abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is a genetic disease with childhood onset characterized clinically by dystonia, parkinsonism, pyramidal signs, visual failure and mental retardation. Progression is usually relentless culminating in severe disability and death within 15 years of onset. Eye movement abnormalities have been described in patients with PKAN including slowed vertical saccades and saccadic vertical pursuit. We here report a patient with PKAN and supranuclear gaze palsy broadening the phenotypic spectrum of the disease.
authors: 2nd Department of Neurology, Medical School, University of Athens, Athens, Greece; General Hospital of Syros, Syros, Greece. mbozigr@yahoo.gr
authors: Maria
authors: M
authors: Bozi
authors: Mar
authors: M
authors: Matarin
authors: Ioannis
authors: I
authors: Theocharis
authors: Costas
authors: C
authors: Potagas
authors: Leonidas
authors: L
authors: Stefanis
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D018450:Disease Progression; D006801:Humans; D008297:Male; D015835:Ocular Motility Disorders / Q000150:complications* / Q000503:physiopathology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications* / Q000000981:diagnostic imaging / Q000503:physiopathology; D011859:Radiography; D012174:Retinitis Pigmentosa / Q000150:complications*; D014786:Vision Disorders / Q000150:complications* / Q000503:physiopathology