title: The structural correlates of functional deficits in early huntington's disease.
abstract: Neuropathological studies in Huntington disease (HD) have demonstrated neuronal loss in the striatum, as well as in other brain regions including the cortex. With diffusion tensor MRI we evaluated the hypothesis that the clinical dysfunction in HD is related to regionally specific lesions of circuit-specific cortico-basal ganglia networks rather than to the striatum only. We included 27 HD and 24 controls from the TRACK-HD Paris cohort. The following assessments were used: self-paced tapping tasks, trail B making test (TMT), University of Pennsylvania smell identification test (UPSIT), and apathy scores from the problem behaviors assessment. Group comparisons of fractional anisotropy and mean diffusivity and correlations were performed using voxel-based analysis. In the cortex, HD patients showed significant correlations between: (i) self paced tapping and mean diffusivity in the parietal lobe at 1.8 Hz and prefrontal areas at 3 Hz, (ii) UPSIT and mean diffusivity in the parietal, and median temporal lobes, the cingulum and the insula, and fractional anisotropy in the insula and the external capsule, (iii) TMT B and mean diffusivity in the white matter of the superior frontal, orbital, temporal, superior parietal and post central areas, and (iv) apathy and fractional anisotropy in the white matter of the rectus gyrus. In the basal ganglia, we found correlations between the self paced tapping, UPSIT, TMT tests, and mean diffusivity in the anterior part of the putamen and the caudate nucleus. In conclusion, disruption of motor, associative and limbic cortico-striatal circuits differentially contribute to the clinical signs of the disease.
authors.affiliation: Center for NeuroImaging Research, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevardde l’Hôpital, Paris Cedex 13, France. christine.delmaire@chru-lille.fr
authors.forename: Christine
authors.initials: C
authors.lastname: Delmaire
authors.forename: Eve M
authors.initials: EM
authors.lastname: Dumas
authors.forename: Michael A
authors.initials: MA
authors.lastname: Sharman
authors.forename: Simon J A
authors.initials: SJ
authors.lastname: van den Bogaard
authors.forename: Romain
authors.initials: R
authors.lastname: Valabregue
authors.forename: Céline
authors.initials: C
authors.lastname: Jauffret
authors.forename: Damian
authors.initials: D
authors.lastname: Justo
authors.forename: Ralf
authors.initials: R
authors.lastname: Reilmann
authors.forename: Julie C
authors.initials: JC
authors.lastname: Stout
authors.forename: David
authors.initials: D
authors.lastname: Craufurd
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Tabrizi
authors.forename: Raymund A C
authors.initials: RA
authors.lastname: Roos
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
authors.forename: Stéphane
authors.initials: S
authors.lastname: Lehéricy
mesh_terms: D057565:Apathy / Q000502:physiology; D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D001931:Brain Mapping; D003071:Cognition / Q000502:physiology; D003072:Cognition Disorders / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D038524:Diffusion Magnetic Resonance Imaging; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000150:complications / Q000473:pathology* / Q000503:physiopathology*; D007090:Image Interpretation, Computer-Assisted; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D011597:Psychomotor Performance / Q000502:physiology