Widespread Heterogeneous Neuronal Loss Across the Cerebral Cortex in Huntington's Disease

Structural and functional changes of the visual cortex in early Huntington's disease

“…Our findings that cortical morphology of the primary visual cortex in early HD remained unaffected is in line with other studies that did not found atrophy of the primary visual cortex in both early and advanced disease stages (Johnson et al, 2015;Nana et al, 2014;Nopoulos et al, 2010). Still, our study is the first study that provides evidence of preserved basic visual processing function in early stages of HD using task-based fMRI that involved a black-and-white checkerboard stimulus.…”

“…Other studies reported similar findings in early manifest HD, such as a reduced nerve cell number in the secondary visual cortex (Nana et al, 2014), volume loss of the occipital lobe (Tabrizi et al, 2009;Wolf et al, 2014), and thinning of the cuneus, lingual gyrus, and lateral occipital cortex that were associated with worse performance on cognitive tasks involving a visual component (Johnson et al, 2015;Rosas et al, 2008). Contrary to our findings, thinning and volume loss of the occipital lobe has also been observed in premanifest HD gene carriers (Johnson et al, 2015;Nopoulos et al, 2010;Rosas et al, 2005;Tabrizi et al, 2009).…”

“…Higher level visual processing occurs in the associative extra-striate regions surrounding the primary visual cortex, from the secondary visual cortex to the ventral occipital-temporal pathway and dorsal occipital-parietal pathway (Ungerleider & Haxby, 1994). In Huntington's disease (HD), an autosomal-dominant inherited neurodegenerative disorder, progressive structural changes in the posterior cerebral cortex can be detected in early stages of the disease, while frontal and temporal regions remain less affected (Johnson et al, 2015;Nana, Kim, Thu, Oorschot, & Tippett, 2014;Nopoulos et al, 2010;Rosas et al, 2008;Rüb et al, 2015;Tabrizi et al, 2009). The manifest stage of HD is clinically characterized by progressive motor disturbances such as chorea and dystonia, cognitive decline, and psychiatric symptoms (Bates et al, 2015;Roos, 2010).…”

“…Striatal atrophy is considered to be the origin of the characteristic choreatic motor signs, but it is suggested that other symptoms of HD might be related to cortical degeneration (Nana et al, 2014;Thu et al, 2010;Waldvogel, Kim, Thu, Tippett, & Faull, 2012). Thinning of regions in the occipital lobe has been linked to worse performance on cognitive visuospatial tasks, which implies a distinct association between higher level cognitive performance and occipital degeneration in HD gene carriers (Johnson et al, 2015;Rosas et al, 2008).…”

Pathoarchitectonics of the cerebral cortex in chorea‐acanthocytosis and Huntington's disease

“…In the initial stage of the disease, all of our five HD cases were characterized clinically by psychiatric symptoms, mood disturbances, and behavioural problems before the onset of choreatic movements [19]. This deteriorating clinical symptomology could be explained by heterogenous cortical neurone and interneurone loss during disease progression [52,53]. We observed several regions with intact groups of layer IIIc pyramidal cells in each cerebral lobe of ChAc1 and 2.…”