Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in XXXX .

@entity1 @entity1952 @entity245 @entity4161 @entity1781 @entity3054 @entity2383
BACKGROUND AND PURPOSE: Brain white matter is frequently affected in @entity2383 ; @entity1952 gene 1-autosomal dominant @entity1952 and @entity3054 are the most frequent mitochondrial monosymptomatic @entity1781 . In this observational study, brain white matter microstructure was characterized by DTI in @entity1 with @entity1952 gene 1-autosomal dominant @entity1952 and @entity3054 , in relation to clinical and genetic features. MATERIALS AND METHODS: Nineteen @entity1 with @entity1952 gene 1-autosomal dominant @entity1952 and 17 with @entity3054 older than 18 years of age, all genetically diagnosed, and 19 healthy volunteers underwent DTI by using a 1.5T MR imaging scanner and neurologic and ophthalmologic assessments. Brain white matter DTI metrics were calculated for all @entity1 , and, in @entity1 , their correlations with genetics and clinical findings were calculated. RESULTS: Compared with controls, @entity1 with @entity1952 gene 1-autosomal dominant @entity1952 had an increased mean diffusivity in 29.2% of voxels analyzed within major white matter tracts distributed throughout the brain, while fractional anisotropy was reduced in 30.3% of voxels. For @entity1 with @entity3054 , the proportion of altered voxels was only 0.5% and 5.5%, respectively, of which half was found within the optic radiation and 3.5%, in the smaller acoustic radiation. In almost all regions, fractional anisotropy diminished with age in @entity1 with @entity1952 gene 1-autosomal dominant @entity1952 and correlated with average retinal nerve fiber layer thickness in several areas. Mean diffusivity increased in those with a missense mutation. @entity1 with @entity3054 taking @entity4161 had slightly milder changes. CONCLUSIONS: @entity1 with @entity3054 had preferential involvement of the optic and acoustic radiations, consistent with trans-synaptic degeneration, whereas @entity1 with @entity1952 gene 1-autosomal dominant @entity1952 presented with widespread involvement suggestive of a multisystemic, possibly a @entity245 . White matter changes in @entity3054 and @entity1952 gene 1-autosomal dominant @entity1952 may be exploitable as biomarkers.
