A patient with pantothenate kinase-associated neurodegeneration and supranuclear gaze palsy.
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.
Bozi
Maria
M
2nd Department of Neurology, Medical School, University of Athens, Athens, Greece; General Hospital of Syros, Syros, Greece. mbozigr@yahoo.gr
Matarin
Mar
M
Theocharis
Ioannis
I
Potagas
Costas
C
Stefanis
Leonidas
L
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