Abstract
Traditionally, Huntington’s disease (HD) has been known as a movement disorder, characterized by motor, psychiatric, and cognitive impairments. Recent studies have shown that motor and action–language processes are neurally associated. The cognitive mechanisms underlying this interaction have been investigated through the action compatibility effect (ACE) paradigm, which induces a contextual coupling of ongoing motor actions and verbal processing. The present study is the first to use the ACE paradigm to evaluate action–word processing in HD patients (HDP) and their families. Specifically, we tested three groups: HDP, healthy first-degree relatives (HDR), and non-relative healthy controls. The results showed that ACE was abolished in HDP as well as HDR, but not in controls. Furthermore, we found that the processing deficits were primarily linguistic, given that they did not correlate executive function measurements. Our overall results underscore the role of cortico-basal ganglia circuits in action–word processing and indicate that the ACE task is a sensitive and robust early biomarker of HD and familial vulnerability.
Highlights
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder resulting from the expansion of CAG trinucleotide repeats (36 or more repeats) within a gene on the short arm of chromosome 4, which codes for the protein huntingtin (Ho et al, 2001)
DEMOGRAPHIC AND CLINICAL EVALUATION There were no significant differences in age between HD patients (HDP) and controls [F (1, 34) = 0.030, p = 0.86], or healthy first-degree relatives (HDR) and controls [F (1, 35) = 0.005, p = 0.94]
Neither did the education level differ between HDP and controls [F (1, 34) = 0.15, p = 0.69] or HDR and controls [F (1, 35) = 0.008, p = 0.94]
Summary
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder resulting from the expansion of CAG trinucleotide repeats (36 or more repeats) within a gene on the short arm of chromosome 4, which codes for the protein huntingtin (Ho et al, 2001). HD is clinically diagnosed by symptoms such as chorea, bradykinesia, dystonia, and incoordination (Tröster, 2006) These typically become evident between the ages of 35 and 44, but, depending on the number of CAG repeats, disease onset ranges from childhood to late adulthood (Bates and Jones, 2002). In pre-HD and early HD stages, the pathology may be present without any of its typical (motor, psychiatric, or otherwise cognitive) signs (Stout et al, 2011), which underscores the need for more sensitive measures. In such cases, damage is usually restricted to basal ganglia structures, especially the caudate nucleus (Harris et al, 1999; Kipps et al, 2005; Kloppel et al, 2008; Henley et al, 2009). As in other neurodegenerative disorders (Ibanez and Manes, 2012), early detection would enable more effective diagnosis and treatment
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