Volume 29, Issue 160, June 2025

Huntington's disease: Advances in Genetics, Pathophysiology, Diagnosis, and Treatment

Karolina Jałocha^1♦, Marek Borecki¹, Kinga Świtała², Patrycja Pysz², Roksana Hrapkowicz³, Maria Mroczka², Agnieszka Czernecka⁴, Kinga Erazmus³, Dominik Tomczak⁵, Justyna Kuciel⁵

¹Karol Marcinkowski University Hospital, Zyty 26, 65-046 Zielona Góra, Poland
²V Military Hospital with Polyclinic, Wrocławska 1-3, 30-901 Kraków, Poland
³Ludwik Rydygier Specialist Hospital, Os. Złotej Jesieni 1, 31-820 Kraków, Poland
⁴Hospital of the Ministry of Internal Affairs and Administration, Kronikarza Galla 25, 30-053 Kraków, Poland
⁵Chrzanów District Hospital, Topolowa 16, 32-500 Chrzanów, Poland

^♦Corresponding author
Karolina Jałocha Karol Marcinkowski University Hospital, Zyty 26, 65-046 Zielona Góra, Poland

ABSTRACT

Huntington's disease (HD) is an inherited genetic neurodegenerative disorder that affects a patient's motor and cognitive abilities. It results from an expanded CAG trinucleotide repeat in the Huntington's disease (HTT) gene. Due to the mutated HTT gene, which aggregates and causes neuronal dysfunction, finding a cure is highly challenging. Huntington’s disease (HD) is a genetic disorder that affects the brain. In recent years, scientists have learned more about the genes and biological processes that cause the disease. This new knowledge has helped improve the way HD is diagnosed and understood. Researchers are also working on new treatments. Some of these include gene therapy and drugs that may protect brain cells. These advances give hope for better care and new ways to slow down the disease in the future. Additionally, we outline current methodologies for literature selection and discuss future research directions in HD management.

Keywords: Huntington's disease, HTT gene, Neurodegeneration, CAG repeat expansion

Medical Science, 2025, 29, e97ms3587

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DOI: https://doi.org/10.54905/disssi.v29i160.e97ms3587

Published: 30 June 2025