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Text
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<a href="http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co" target="_blank" rel="noreferrer">http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co</a>
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Title
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Niemann-Pick disease type C: Two cases and an update.
Publisher
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Movement Disorders: Official Journal Of The Movement Disorder Society
Date
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2000
Subject
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Female; Humans; Male; Middle Aged; Disease Progression; Longitudinal Studies; adolescent; Age of Onset; Cholesterol/metabolism; Esterification; Diagnosis; Differential; Cells; Cultured; Fibroblasts/metabolism; Niemann-Pick Diseases/diagnosis/physiopathology; Skin/pathology
Creator
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Uc EY; Wenger DA; Jankovic J
Identifier
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<a href="http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co" target="_blank" rel="noreferrer">10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
Description
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We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed complex partial seizures in his teens but remained otherwise neurologically asymptomatic until his mid 30s. At age 45, he had mild dementia and dysarthria, vertical supranuclear ophthalmoplegia, axonal sensorimotor polyneuropathy, and cerebellar ataxia. The second patient presented with rapidly progressive dystonia at age 8, and mild hepatosplenomegaly, vertical supranuclear ophthalmoplegia, severe behavioral disorder, and dementia by age 14. The diagnosis of NPC was based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. Current notions about diagnosis and pathogenesis of NPC are reviewed.
2000
Adolescent
Age of Onset
Backlog
Cells
Cholesterol/metabolism
Cultured
Diagnosis
Differential
Disease Progression
Esterification
Female
Fibroblasts/metabolism
Humans
Jankovic J
Journal Article
Longitudinal Studies
Male
Middle Aged
Movement Disorders: Official Journal Of The Movement Disorder Society
Niemann-Pick Diseases/diagnosis/physiopathology
Skin/pathology
Uc EY
Wenger DA