Abstract
Background: Huntington's disease (HD) is a rare autosomal dominant neurological disease caused by a repeat expansion of the cytosine-adenine-guanine (CAG) trinucleotide in the huntingtin gene (HTT) on chromosome 4. Over 36 CAG repeats typically lead to HD, with 40 or more repeats causing symptoms. HD prevalence and incidence vary by ethnicity, being higher in Caucasians than Asians or African Americans, with limited research on Hispanics. This study at the University of Miami (UM) aims to explore demographic, clinical, and genetic characteristics of Hispanic and non-Hispanic HD patients.
Methods: We conducted a cross-sectional analysis of non-identifiable data from patients attending the UM HD clinic between January 2022 and January 2023. Differences between Hispanic and non-Hispanic patients were identified using descriptive analysis, chi-square or Fisher's exact tests, and two-sample independent t-tests. Data management and statistical analysis were performed using SAS OnDemand for Academics.
Results: Out of 75 patients, 57.3% were non-Hispanic, 42.7% Hispanic, 61.3% female, and 90.7% White. The average age in years was 50.37 (SD=14.03), with most patients having private insurance. Non-Hispanics had an average HD symptom onset at 41.81 years, and Hispanics at 44.24 years. The time from symptom onset to the latest visit was 10.22 years for non-Hispanics and 7.52 for Hispanics. Around 86% of non-Hispanics and 90.6% of Hispanics tested positive for the HD mutation, with mean CAG repeats of 42.17 and 43.93 respectively. Most patients showed no significant HD stage shifts within three years. No statistical differences were observed between ethnic groups.
Conclusions: This study found no significant ethnic differences in HD characteristics but highlights the need for further research, particularly in the Hispanic HD population. Continuation and expansion of this database are vital for addressing disparities, awareness, and language barriers, ultimately enhancing care for Hispanic HD patients and their families.