Significant Association Between Huntingtin Gene Mutation and Prevalence of Hopelessness, Depression and Anxiety Symptoms

Abstract

Background: In Huntington’s disease psychiatric symptoms may manifest prior to motor dysfunction. Such symptoms negatively impact people’s quality of life and can worsen the course of the primary disease. The aim of the present study was to assess and compare depression, anxiety and hopelessness rates in individuals with and without an abnormal expansion of CAG repeats in the huntingtin (HTT) gene and healthy controls.Materials and methods: Study involved 31 individuals referred for genetic testing for Huntington’s disease and a control group of 41. Depressive and anxiety symptoms were assessed using Beck Hopelessness Scale (BHS) and Hospital Anxiety and Depression Scale (HADS). Results between groups were compared using the Mann–Whitney U test. Two-sided Bonferroni corrected p-value was set at ≤0.017.Results: Individuals with HTT gene mutation (“gene mutation positive”, GMP) (N=20) scored higher on the HADS depression subscale (5.90 ± 4.52 vs 1.36 ± 1.91; p ≤ 0.017) than those without HTT gene mutation (“gene mutation negative”, GMN) (N=11). GMP and control groups scored higher than the GMN group on the BHS (5.65 ± 3.91 vs 2.09 ± 1.64 and 5.27 ± 4.11 vs 2.09 ± 1.64, respectively; p ≤ 0.017). No differences in anxiety levels were found.Conclusions: Depressive symptoms and hopelessness were more prevalent in individuals with HTT gene mutation than in individuals who were tested but had no said mutation. Such results emphasise the importance of timely diagnosis and treatment of psychiatric comorbidities in individuals affected by Huntington’s disease.

Another Perspective on Huntington’s Disease: Disease Burden in Family Members and Pre-Manifest HD When Compared to Genotype-Negative Participants from ENROLL-HD

“…Another perspective was taken and objectives pursued to analyze—in addition to early manifest HD patients—prodromal and premanifest mutation carriers, whereby neuropsychiatric symptoms were highly prevalent in premanifest stages, such as irritability, apathy, and executive dysfunctions (measured within the PBA) [ 25 , 26 ]. Within a small cohort of n = 31 participants, an association between hopelessness, depression, and anxiety symptoms was recently detected in the Hospital Anxiety and Depression Scale (HADS) in HTT -mutation carriers without clinical HD diagnosis when compared to participants without mutation, emphasizing the need for timely diagnostics and symptomatic treatments [ 27 ]. It remains unknown whether these findings can be validated in larger HD cohorts.…”