Document Detail


White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations.
MedLine Citation:
PMID:  19833797     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND AND PURPOSE: RTT, caused by mutations in the methyl CPG binding protein 2 (MeCP2) gene, is a disorder of neuronal maturation and connections. Our aim was to prospectively examine FA by DTI and correlate this with certain clinical features in patients with RTT. MATERIALS AND METHODS: Thirty-two patients with RTT underwent neurologic assessments and DTI. Thirty-seven age-matched healthy female control subjects were studied for comparison. With use of a 1.5T MR imaging unit, DTI data were acquired, and FA was evaluated to investigate multiple regional tract-specific abnormalities in patients with RTT. RESULTS: In RTT, significant reductions in FA were noted in the genu and splenium of the corpus callosum and external capsule, with regions of significant reductions in the cingulate, internal capsule, posterior thalamic radiation, and frontal white matter. In contrast, FA of visual pathways was similar to control subjects. FA in the superior longitudinal fasciculus, which is associated with speech, was equal to control subjects in patients with preserved speech (phrases and sentences) (P = .542), whereas FA was reduced in those patients who were nonverbal or speaking only single words (P < .001). No correlations between FA values for tracts and clinical features such as seizures, gross or fine motor skills, and head circumference were identified. CONCLUSIONS: DTI, a noninvasive technique to assess white matter tract pathologic features, may add specificity to the assessment of RTT clinical severity that is presently based on the classification of MeCP2 gene mutation and X-inactivation.
Authors:
A Mahmood; G Bibat; A-L Zhan; I Izbudak; L Farage; A Horska; S Mori; S Naidu
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Publication Detail:
Type:  Controlled Clinical Trial; Journal Article; Research Support, N.I.H., Extramural     Date:  2009-10-15
Journal Detail:
Title:  AJNR. American journal of neuroradiology     Volume:  31     ISSN:  1936-959X     ISO Abbreviation:  AJNR Am J Neuroradiol     Publication Date:  2010 Feb 
Date Detail:
Created Date:  2010-02-12     Completed Date:  2010-04-23     Revised Date:  2010-09-27    
Medline Journal Info:
Nlm Unique ID:  8003708     Medline TA:  AJNR Am J Neuroradiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  295-9     Citation Subset:  IM    
Affiliation:
Department of Internal Medicine, University of Texas Medical Branch, Galveston, Texas, USA.
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MeSH Terms
Descriptor/Qualifier:
Child
Child, Preschool
Corpus Callosum / pathology
Diffusion Tensor Imaging / methods*
Female
Frontal Lobe / pathology
Gyrus Cinguli / pathology
Humans
Methyl-CpG-Binding Protein 2 / genetics
Nerve Fibers, Myelinated / pathology*
Prospective Studies
Rett Syndrome / genetics,  pathology*
Sensitivity and Specificity
Severity of Illness Index
Thalamus / pathology
Visual Pathways / pathology
X Chromosome Inactivation
Grant Support
ID/Acronym/Agency:
AG-20012/AG/NIA NIH HHS; P01 HD024448-20/HD/NICHD NIH HHS; P01-HD-24448/HD/NICHD NIH HHS; RR-15241/RR/NCRR NIH HHS; UL1RR025005/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2
Comments/Corrections

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


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