[Functional imaging of cognitive processes in Huntington's disease and its presymptomatic mutation carriers]

R C Wolf, N Vasic, C Schönfeldt-Lecuona, D Ecker, G B Landwehrmeyer
Der Nervenarzt 2008, 79 (4): 408-20
Cognitive deficits are among the core symptoms of patients with Huntington's disease (HD). While impaired attention, visuospatial processing, and memory can be observed during early stages of the illness, HD patients exhibit deficits in executive function on tests requiring planning, problem solving, and cognitive flexibility with progression of the disease. Cognitive dysfunction is already present in individuals who carry the HD gene mutation but remain presymptomatic for motor and cognitive disturbances. This review provides an overview and a discussion of functional neuroimaging findings on cognitive dysfunction in patients with HD and presymptomatic HD gene mutation carriers. In HD patients, currently available evidence suggests a functional deficit of multiple cortical and subcortical regions extending beyond volumetric abnormalities. Early dysfunction of lateral prefrontal and cingulate regions has been shown in individuals with presymptomatic HD, while compensatory responses of posterior brain regions may occur closer to the onset of manifest clinical symptoms. While functional neuroimaging techniques may substantially contribute to defining neurodegenerative disease phenotypes and to identifying neural biomarkers in presymptomatic individuals, the extant data on cognitive function in HD patients and HD gene carriers however is sparse and has to be expanded through further studies.

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