Valeria A. Gerena-Gonzalez
Jan C. Urbán Arroyo
Carlos J. Román-Santiago
Neishmaydi Negron-Zeda
Zoe Cruz-Gi
Sylvette Ayala-Peña
Universidad Central del Caribe, School of Medicine
Fundación Huntington Puerto Rico
University of Puerto Rico, Medical Sciences Campus
Introduction
Huntington’s disease (HD) is a progressive neurodegenerative disorder caused by CAG trinucleotide repeat expansions that lead to neuronal damage and premature cell death. In a healthy individual, the HD gene codes for huntingtin protein (HTT), which aids in neuronal development, intracellular transport, transcriptional regulation, and protein recycling. It contributes to the survival and function of neurons in the striatum and cortex. Mutations lead to a prolonged polyglutamine stretch at the protein N-terminus, causing different severities of the disease. Although symptoms vary from person to person, they affect motor, cognitive, and psychological functioning. This complex expressivity leads to patients being misdiagnosed with other neurodegenerative diseases such as Parkinson’s disease, schizophrenia, and Alzheimer’s disease. Other contributing factors include the disease’s rarity, long delay between psychiatric and motor symptoms, and possible social stigma causing gaps in family history. Although there is no cure for HD, early diagnosis improves prognosis and quality of life. Primary care physicians (PCPs) and neurologists are often the first to encounter this patient population, and misdiagnoses frequently occur during this initial interaction.
Methods
Using questionnaires randomly distributed via email, this study plans to assess barriers that delay the identification of HD during primary care, understand how aware PCPs and neurologists are regarding HD in Puerto Rico, categorize regions based on physicians’ awareness of HD, and determine whether presymptomatic counseling is available for individuals at risk of developing HD.
Results / Conclusion
A first of its kind regarding the HD population in Puerto Rico, this study will offer valuable insights and raise awareness regarding the identification and diagnosis of HD on the island.
IRB Approval Number
2025-15
