| A patient with pantothenate kinase-associated neurodegeneration and supranuclear gaze palsy. | |
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MedLine Citation:
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PMID: 19570605 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Maria Bozi; Mar Matarin; Ioannis Theocharis; Costas Potagas; Leonidas Stefanis |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-06-30 |
Journal Detail:
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Title: Clinical neurology and neurosurgery Volume: 111 ISSN: 1872-6968 ISO Abbreviation: Clin Neurol Neurosurg Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-08-24 Completed Date: 2009-11-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7502039 Medline TA: Clin Neurol Neurosurg Country: Netherlands |
Other Details:
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Languages: eng Pagination: 688-90 Citation Subset: IM |
Affiliation:
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2nd Department of Neurology, Medical School, University of Athens, Athens, Greece; General Hospital of Syros, Syros, Greece. mbozigr@yahoo.gr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Disease Progression Humans Male Ocular Motility Disorders / complications*, physiopathology Pantothenate Kinase-Associated Neurodegeneration / complications*, physiopathology, radiography Retinitis Pigmentosa / complications* Vision Disorders / complications*, physiopathology |
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