Document Detail

Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis.
MedLine Citation:
PMID:  18184943     Owner:  NLM     Status:  MEDLINE    
The authors report the clinical, neuroradiologic, and neuromuscular pathological findings in a patient with GM1 gangliosidosis. The proton magnetic resonance spectroscopy, previously reported in a single patient with GM1 gangliosidosis, detected a mild reduction of N-acetylaspartate, consistent with relative paucity of axons and neurons and increased levels of myoinositol suggestive of gliotic white matter changes along with the accumulation of an additional compound that could represent either guanidinoacetate or Gal beta 1-6Gal beta 1-4)GlcNAc, an oligosaccharide previously isolated from the urine of GM1 gangliosidosis patients. Although these findings will have to be further confirmed in more patients with GM1 gangliosidosis, they suggest that proton magnetic resonance spectroscopy may provide useful end points to assess the efficacy of novel treatments that could soon become clinically available. Histologically, no significant alterations were found in axons, but there was evidence of redundant and inappropriately folded myelin, which is a feature attributed to disturbed axon-glial interactions.
Nicola Brunetti-Pierri; Meenakshi B Bhattacharjee; Zhiyue J Wang; Zili Chu; David A Wenger; Lorraine Potocki; Jill Hunter; Fernando Scaglia
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of child neurology     Volume:  23     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2008-01-10     Completed Date:  2008-03-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  73-8     Citation Subset:  IM    
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
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MeSH Terms
Aspartic Acid / analogs & derivatives,  analysis,  metabolism
Axons / metabolism,  pathology
Biological Markers / analysis,  metabolism
Brain / metabolism,  pathology*,  physiopathology*
Gangliosidosis, GM1 / diagnosis*,  metabolism,  physiopathology*
Gliosis / diagnosis,  metabolism,  physiopathology
Inositol / analysis,  metabolism
Magnetic Resonance Spectroscopy / methods*
Microcirculation / metabolism,  pathology
Muscle, Smooth, Vascular / metabolism,  pathology
Nerve Degeneration / diagnosis,  metabolism,  physiopathology
Nerve Fibers, Myelinated / metabolism,  pathology
Neuroglia / metabolism,  pathology
Oligosaccharides / analysis,  metabolism
Predictive Value of Tests
Schwann Cells / metabolism,  pathology
Sensitivity and Specificity
Grant Support
Reg. No./Substance:
0/Biological Markers; 0/Oligosaccharides; 56-84-8/Aspartic Acid; 6917-35-7/Inositol; 997-55-7/N-acetylaspartate

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