Search

Huntington's disease is an incurable neurodegenerative disease caused by inheritance of an expanded cytosine-adenine-guanine (CAG) trinucleotide repeat within the Huntingtin gene. Extensive volume loss and altered diffusion metrics in the basal ganglia, cortex and white matter are seen when patients with Huntington's disease (HD) undergo structural imaging, suggesting that changes in basal ganglia-cortical structural connectivity occur. The aims of this study were to characterise altered patterns of basal ganglia-cortical structural connectivity with high anatomical precision in premanifest and early manifest HD, and to identify associations between structural connectivity and genetic or clinical markers of HD. 3-Tesla diffusion tensor magnetic resonance images were acquired from 14 early manifest HD subjects, 17 premanifest HD subjects and 18 controls. Voxel-based analyses of probabilistic tractography were used to quantify basal ganglia-cortical structural connections. Canonical variate analysis was used to demonstrate disease-associated patterns of altered connectivity and to test for associations between connectivity and genetic and clinical markers of HD; this is the first study in which such analyses have been used. Widespread changes were seen in basal ganglia-cortical structural connectivity in early manifest HD subjects; this has relevance for development of therapies targeting the striatum. Premanifest HD subjects had a pattern of connectivity more similar to that of controls, suggesting progressive change in connections over time. Associations between structural connectivity patterns and motor and cognitive markers of disease severity were present in early manifest subjects. Our data suggest the clinical phenotype in manifest HD may be at least partly a result of altered connectivity. Hum Brain Mapp 36:1728-1740, 2015. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Abstract: There is increasing interest in the nature of the emotion recognition deficit in Huntington''s disease (HD). There are conflicting reports of disproportionate impairments for some emotions in some modalities in HD. A systematic review and narrative synthesis was conducted for studies investigating emotion recognition in HD. Embase, MEDLINE, PsychINFO and Pubmed were searched from 1993 to 2010, and citations and reference lists were searched. 1724 citations were identified. Sixteen studies were included. In manifest HD evidence of impaired recognition of facial expressions of anger was found consistently, although recognition of all negative emotions (facial and vocal) tended to be impaired. In premanifest HD impairments were inconsistent, but are seen in all facial expressions of negative emotion. Inconsistency may represent the variability inherent in HD although may also be due to between-study differences in methodology. Current evidence supports the conclusion that recognition of all negative emotions tends to be impaired in HD, particularly in the facial domain. Future work should focus on using more ecologically-valid tests, and testing inter-modality differences. [Copyright &y& Elsevier]