Abstract:
This chapter focuses on the involvement of the cerebral cortex in Huntington disease, with special emphasis on the link between cortical pathology and variable clinical manifestations. Huntington disease is an autosomal-dominant neurodegenerative disorder characterized by involuntary movements and cognitive and psychiatric disturbances. The disease is caused by an expansion of polyglutamine repeats in the N-terminal domain of the huntingtin protein from a genetic mutation in the HTT gene on human chromosome 4. The major pathosis occurs in the brain with profound degeneration in the forebrain regions, namely the striatum and the cerebral cortex. Despite the single gene etiology, there is major variability in the neuropathology, as well as major heterogeneity in the symptom profiles. Recent in vivo imaging and pathological studies have shown that cortical degeneration is related to variable symptomatology. Here, we summarize the recent progress on how cortical degeneration contributes to symptom heterogeneity in Huntington disease.
