Document Detail

Adult-onset neuronal ceroid lipofuscinosis type B in an African-American.
MedLine Citation:
PMID:  15726574     Owner:  NLM     Status:  MEDLINE    
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.
Cristina S Ivan; Marie H Saint-Hilaire; Thomas G Christensen; Jeff M Milunsky
Related Documents :
3783624 - Microtia with meatal atresia and conductive deafness: mild and severe manifestations wi...
6858804 - Epsilon-amino-caproic acid in the treatment of osler's hereditary angioneurotic edema.
1554024 - Pentalogy of cantrell and ectopia cordis, a familial developmental field complex.
25426794 - Congenital double upper lip: review of literature and report of a case.
6996814 - Clinical usefulness of computer diagnosis in automated electrocardiography.
21843734 - Esophageal lung: presentation, management, and review of literature.
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.
Department of Neurology, School of Medicine, Boston University Medical Center, 715 Albany Street, Boston, MA 02118, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
African Americans
Endothelial Cells / pathology,  ultrastructure*
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

Previous Document:  Cinosulfuron: chemical and biological degradability, adsorption and dissipation in flooded paddy fie...
Next Document:  Nerve stimulation boosts botulinum toxin action in spasticity.