Objective: To describe the prevalence of motor and neuropsychiatric symptoms in HD patients seen at the Center of Movement Disorders (CETRAM), Santiago, Chile.

Background: There is limited data in Chile regarding motor and non-motor features of patients with Huntington’s disease (HD). However, it is well-established that neuropsychiatric events are present throughout the evolution of HD.

Method: This is a retrospective, descriptive study of patients with HD seen at CETRAM between 2014 and 2023. We investigated the patients’ family background, genetic tests (either personal or first-degree relative), and neuropsychiatric features. Symptoms correlated with their age of onset, were recorded. The repeat length (RL) of CAG trinucleotide expansion mutation in the HTT gene was divided into three groups: 36-42, 43-48, and 49 or above. We explored the correlation between symptoms and factors such as sex, RL, age at onset of symptoms, and years of diagnosis.

Results: The study included 70 patients with an average age of 49.44 years (SD=13.69). 62.9% were women and 37.1% were men. Maternal and Paternal inheritance was identified in 40% and 48.57% of cases, respectively. 2.86% had no family history, and 8.57% were still unknown. According to the reported information, a medical history of neuropsychiatric characteristics included depression (68.6%), irritability (77.1%), violent behavior (47.1%), apathy (67.1%), obsessive behavior (75.7%), psychosis (24.35), cognitive impairment (12.9%), previous suicidal ideation or attempts (12.9%). Motor symptoms were present in 88.6%. No statistically significant association (SSA) was found between gender and symptoms (table 1). However, there was a SSA between violence and RL (P value<0.05, Table 2). Additionally, depression, irritability, apathy, and motor symptoms had SSA with the year of HD diagnosis (table 3).

Conclusion: Neuropsychiatric symptoms are prevalent in individuals with HD. The high incidence of suicidal behavior in this cohort is noteworthy. Depression, apathy, irritability, and motor symptoms can manifest years before diagnosis, indicating a delay in treatment, genetic counseling and family support. Remarkably, individuals with a higher RL seem more susceptible to violent behavior. To establish these correlations better, we need to expand our sample size of HD patients.

Table 1

Table 2

Table 3

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-and-epidemiological-aspects-of-neuropsychiatric-features-in-patients-with-huntington-disease-in-chile/