The structural correlates of functional deficits in early huntington's disease

• Published in: Human brain mapping Vol. 34; no. 9; pp. 2141 - 2153
• Main Authors: Delmaire, Christine, Dumas, Eve M., Sharman, Michael A., van den Bogaard, Simon J.A., Valabregue, Romain, Jauffret, Céline, Justo, Damian, Reilmann, Ralf, Stout, Julie C., Craufurd, David, Tabrizi, Sarah J., Roos, Raymund A.C., Durr, Alexandra, Lehéricy, Stéphane
• Format: Journal Article
• Language: English
• Published: New York, NY Blackwell Publishing Ltd 01.09.2013; Wiley-Liss; John Wiley & Sons, Inc; Wiley; John Wiley and Sons Inc
• Subjects: Apathy - physiology; Biological and medical sciences; Brain - pathology; Brain - physiopathology; Brain Mapping; Cognition - physiology; Cognition Disorders - etiology; Cognition Disorders - pathology; Cognition Disorders - physiopathology; Computer Science; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Diffusion Magnetic Resonance Imaging; diffusion tensor imaging; Female; Humans; Huntington Disease - complications; Huntington Disease - pathology; Huntington Disease - physiopathology; Huntington's disease; Image Interpretation, Computer-Assisted; Investigative techniques, diagnostic techniques (general aspects); Male; Medical Imaging; Medical sciences; Middle Aged; MRI; Nervous system; Neurology; Neuropsychological Tests; Psychomotor Performance - physiology; Radiodiagnosis. Nmr imagery. Nmr spectrometry; VBM; VBM; Nervous system diseases; Radiodiagnosis; MRI; Huntington disease; Functional deficit; Huntington's disease; Nuclear magnetic resonance imaging; Genetic disease; Cerebral disorder; Diffusion tensor imaging; Central nervous system disease; Degenerative disease; Extrapyramidal syndrome; diffusion tensor imaging
• ISSN: 1065-9471; 1097-0193
• DOI: 10.1002/hbm.22055

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. Hum Brain Mapp 34:2141–2153, 2013. © 2012 Wiley Periodicals, Inc.