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1.
AJNR Am J Neuroradiol ; 37(9): 1617-22, 2016 Sep.
Article in English | MEDLINE | ID: mdl-27127001

ABSTRACT

BACKGROUND AND PURPOSE: The impact of white matter hyperintensities on the diffusion characteristics of crossing tracts is unclear. This study used quantitative tractography at 3T MR imaging to compare, in the same individuals, the diffusion characteristics of corpus callosum tracts that crossed white matter hyperintensities with the diffusion characteristics of corpus callosum tracts that did not pass through white matter hyperintensities. MATERIALS AND METHODS: Brain T2 fluid-attenuated inversion recovery-weighted and diffusion tensor 3T MR imaging scans were acquired in 24 individuals with white matter hyperintensities. Tractography data were generated by the Fiber Assignment by Continuous Tracking method. White matter hyperintensities and corpus callosum tracts were manually segmented. In the corpus callosum, the fractional anisotropy, radial diffusivity, and mean diffusivity of tracts crossing white matter hyperintensities were compared with the fractional anisotropy, radial diffusivity, and mean diffusivity of tracts that did not cross white matter hyperintensities. The cingulum, long association fibers, corticospinal/bulbar tracts, and thalamic projection fibers were included for comparison. RESULTS: Within the corpus callosum, tracts that crossed white matter hyperintensities had decreased fractional anisotropy compared with tracts that did not pass through white matter hyperintensities (P = .002). Within the cingulum, tracts that crossed white matter hyperintensities had increased radial diffusivity compared with tracts that did not pass through white matter hyperintensities (P = .001). CONCLUSIONS: In the corpus callosum and cingulum, tracts had worse diffusion characteristics when they crossed white matter hyperintensities. These results support a role for white matter hyperintensities in the disruption of crossing tracts.


Subject(s)
Corpus Callosum/diagnostic imaging , Diffusion Tensor Imaging/methods , White Matter/diagnostic imaging , Anisotropy , Diffusion Magnetic Resonance Imaging/methods , Female , Humans , Male , Pyramidal Tracts/diagnostic imaging
2.
Neurology ; 77(4): 325-33, 2011 Jul 26.
Article in English | MEDLINE | ID: mdl-21753163

ABSTRACT

OBJECTIVES: Using a family study design, we describe the motor and nonmotor phenotype in probands with LRRK2 G2019S mutations and family members and compare these individuals to patients with idiopathic Parkinson disease (iPD) and unrelated controls. METHODS: Probands with G2019S mutations and their first-degree relatives, subjects with iPD, and unrelated control subjects were identified from 4 movement disorders centers. All underwent neurologic examinations and tests of olfaction, color vision, anxiety, and depression inventories. RESULTS: Tremor was more often a presenting feature among 25 individuals with LRRK2-associated PD than among 84 individuals with iPD. Subjects with LRRK2-PD had better olfactory identification compared with subjects with iPD, higher Beck Depression Inventory scores, and higher error scores on Farnsworth-Munsell 100-Hue test of color discrimination. Postural or action tremor was more common among 29 nonmanifesting mutation carriers compared with 53 noncarriers within the families. Nonparkinsonian family members had higher Unified Parkinson's Disease Rating Scale motor scores, more constipation, and worse color discrimination than controls, regardless of mutation status. CONCLUSIONS: Although tremor is a more common presenting feature of LRRK2-PD than iPD and some nonmotor features differed in degree, the phenotype is largely overlapping. Postural or action tremor may represent an early sign. Longitudinal evaluation of a large sample of nonmanifesting carriers will be required to describe any premotor phenotype that may allow early diagnosis.


Subject(s)
Genetic Predisposition to Disease , Heterozygote , Mutation , Parkinson Disease/genetics , Phenotype , Protein Serine-Threonine Kinases/genetics , Adult , Aged , Aged, 80 and over , Anxiety/complications , Anxiety/genetics , Color Vision Defects/complications , Color Vision Defects/genetics , Depression/complications , Depression/genetics , Family , Female , Humans , Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 , Male , Middle Aged , Neurologic Examination/methods , Olfaction Disorders/complications , Olfaction Disorders/genetics , Parkinson Disease/complications , Psychiatric Status Rating Scales , Tremor/complications , Tremor/genetics
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