Document Detail

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

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