| White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations. | |
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MedLine Citation:
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PMID: 19833797 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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A Mahmood; G Bibat; A-L Zhan; I Izbudak; L Farage; A Horska; S Mori; S Naidu |
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Publication Detail:
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Type: Controlled Clinical Trial; Journal Article; Research Support, N.I.H., Extramural Date: 2009-10-15 |
Journal Detail:
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Title: AJNR. American journal of neuroradiology Volume: 31 ISSN: 1936-959X ISO Abbreviation: AJNR Am J Neuroradiol Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-02-12 Completed Date: 2010-04-23 Revised Date: 2010-09-27 |
Medline Journal Info:
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Nlm Unique ID: 8003708 Medline TA: AJNR Am J Neuroradiol Country: United States |
Other Details:
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Languages: eng Pagination: 295-9 Citation Subset: IM |
Affiliation:
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Department of Internal Medicine, University of Texas Medical Branch, Galveston, Texas, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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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:
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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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