Document Detail


A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex.
MedLine Citation:
PMID:  23337002     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The cerebellum plays an important role in motor learning and cognition, and structural cerebellar abnormalities have been associated with cognitive impairment. In tuberous sclerosis complex, neurologic outcome is highly variable, and no consistent imaging or pathologic determinant of cognition has been firmly established. The cerebellum calls for specific attention because mouse models of tuberous sclerosis complex have demonstrated a loss of cerebellar Purkinje cells, and cases of human histologic data have demonstrated a similar loss in patients. We hypothesized that there might be a common cerebellar finding in tuberous sclerosis complex that could be measured as morphometric changes with magnetic resonance imaging. Using a robust, automated image analysis procedure, we studied 36 patients with tuberous sclerosis complex and age-matched control subjects and observed significant volume loss among patients in the cerebellar cortices and vermis. Furthermore, this effect was strongest in a subgroup of 19 patients with a known, pathogenic mutation of the tuberous sclerosis 2 gene and impacted all cerebellar structures. We conclude that patients with tuberous sclerosis complex exhibit volume loss in the cerebellum, and this loss is larger and more widespread in patients with a tuberous sclerosis 2 mutation.
Authors:
Neil I Weisenfeld; Jurriaan M Peters; Peter T Tsai; Sanjay P Prabhu; Kira A Dies; Mustafa Sahin; Simon K Warfield
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  48     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-22     Completed Date:  2013-07-02     Revised Date:  2014-02-04    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  105-10     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Elsevier Inc. All rights reserved.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Brain Mapping
Cerebellum / pathology*
Child
Child, Preschool
Female
Humans
Infant
Magnetic Resonance Imaging
Male
Organ Size
Tuberous Sclerosis / pathology*
Grant Support
ID/Acronym/Agency:
R01 EB008015/EB/NIBIB NIH HHS; R01 EB008015/EB/NIBIB NIH HHS; R01 LM010033/LM/NLM NIH HHS; R01 LM010033/LM/NLM NIH HHS; R01 RR021885/RR/NCRR NIH HHS; R01 RR021885/RR/NCRR NIH HHS; R03 EB008680/EB/NIBIB NIH HHS; R03 EB008680/EB/NIBIB NIH HHS
Comments/Corrections

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


Previous Document:  Management of juvenile myasthenia gravis.
Next Document:  Disease-specific quality of life in young patients with tourette syndrome.