Document Detail


Adult-onset neuronal ceroid lipofuscinosis type B in an African-American.
MedLine Citation:
PMID:  15726574     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a rare case of adult-onset neuronal ceroid lipofuscinosis (NCL) type B with probable autosomal dominant inheritance, exhibiting behavioral and cognitive abnormalities and extrapyramidal findings. Ultrastructural examination revealed abundant fingerprint profiles in several cell types. To our knowledge, this is the first reported case of an African-American with adult-onset NCL.
Authors:
Cristina S Ivan; Marie H Saint-Hilaire; Thomas G Christensen; Jeff M Milunsky
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  20     ISSN:  0885-3185     ISO Abbreviation:  Mov. Disord.     Publication Date:  2005 Jun 
Date Detail:
Created Date:  2005-06-06     Completed Date:  2005-07-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  United States    
Other Details:
Languages:  eng     Pagination:  752-4     Citation Subset:  IM    
Copyright Information:
(c) 2005 Movement Disorder Society.
Affiliation:
Department of Neurology, School of Medicine, Boston University Medical Center, 715 Albany Street, Boston, MA 02118, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
African Americans
Endothelial Cells / pathology,  ultrastructure*
Female
Humans
Microscopy, Electron, Transmission / methods
Muscle, Smooth / pathology,  ultrastructure*
Neuronal Ceroid-Lipofuscinoses / classification,  pathology*,  physiopathology
Neuropsychological Tests

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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