TY - JOUR T1 - White Matter Impairment in Rett Syndrome: Diffusion Tensor Imaging Study with Clinical Correlations JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. SP - 295 LP - 299 DO - 10.3174/ajnr.A1792 VL - 31 IS - 2 AU - A. Mahmood AU - G. Bibat AU - A.-L. Zhan AU - I. Izbudak AU - L. Farage AU - A. Horska AU - S. Mori AU - S. Naidu Y1 - 2010/02/01 UR - http://www.ajnr.org/content/31/2/295.abstract N2 - 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. AIRautomated image registrationALICanterior limb of internal capsuleCCcorpus callosumCG1, CG3, CG4cingulate gyrusCG2cingulumCPcerebral peduncleCPGcytosine guanosine dinucleotideDTIdiffusion tensor imagingECexternal capsuleFAfractional anisotropyFWfrontal white matterFX/STfornix/stria terminalisGCgenu of corpus callosumICBMInternational Consortium of Brain MappingIFOinferior fronto-occipital fasciculusLIlaterality indexMCPmiddle cerebellar pedunclePCRposterior corona radiataPLICposterior limb of internal capsulePTRposterior thalamic radiationROIregion of interestRTTRett syndromeSCCsplenium of corpus callosumSCPsuperior cerebellar peduncleSLFsuperior longitudinal fasciculusSSsagittal stratum. ER -