White matter connections reflect changes in voluntary-guided saccades in pre-symptomatic Huntington's disease

摘要: Huntington's disease is caused by a known genetic mutation and so potentially can be diagnosed many years before the onset of symptoms. Neuropathological changes have been found in both striatum frontal cortex pre-symptomatic stage. Disruption cortico-striatal white matter fibre tracts therefore likely to contribute first clinical signs disease. We analysed diffusion tensor MR image (DTI) data from 25 gene carriers (PSCs) 20 matched controls using multivariate support vector machine identify patterns fractional anisotropy (FA). In addition, we performed probabilistic tracking detect ‘streamlines’ connecting striatum. pattern structural brain that includes putamen bilaterally as well anterior parts corpus callosum. This was sufficiently specific enable us correctly classify 82% scans coming PSC or control subject. Fibre revealed reduction cortico-fugal streamlines reaching body caudate PSCs compared controls. left hemispheres negative correlation between estimated caudate. A large proportion fibres originate eye fields, which play an important role voluntary saccades. type saccade specifically impaired early sign motor abnormalities. analysis 14 subjects with greater impairment voluntary-guided saccades had fewer body. Our findings suggest patho-physiological basis for these symptoms indicating selective vulnerability associated tracts.