Dementia in Huntington's Disease: A Case Report

Authors

Keywords:

Huntington's disease; basal ganglia; huntingtin; elderly; case report

Abstract

The fundamental purpose of this report is to analyze Huntington's Disease (HD) as a low-prevalence pathology that requires a comprehensive clinical approach, especially when associated with late-onset dementia syndrome. The methodology involved the descriptive study of a 77-year-old patient with chronic choreic movements, utilizing clinical evaluation of superior functions and genetic confirmation through PCR to quantify CAG triplet repeats for diagnosis. As main results, a severe and progressive neurocognitive decline was identified, with an expansion of 51 repeats in the IT15 gene, confirming a subcortical-type dementia characterized by the loss of executive functions and total dependency. It is concluded that, due to the autosomal dominant etiology and the absence of curative treatments, timely diagnosis and family genetic counseling are essential for symptomatic management and palliative care planning given the prognosis of progressive degeneration.

References

Aasly, J. O. (2024). Precision medicine and palliative care in Huntington’s disease. Frontiers in Neurology, 15, 128-135. https://doi.org/10.3389/fneur.2024.00128

Caron, N. S., Munsie, L., & Hayden, M. R. (2024). Huntington Disease. En M. P. Adam, J. Feldman, & G. M. Mirzaa (Eds.), GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1305/

Cassarino, M., Robinson, K., Quinn, R., Naughton, C., & McCormack, C. (2021). Impact of cognitive impairment on care outcomes in Huntington’s disease: A systematic review. Journal of Personalized Medicine, 11(8), 754. https://doi.org/10.3390/jpm11080754

Hensman Moss, D. J., Flower, M. D., & Tabrizi, S. J. (2021). Huntington’s disease: A review of current therapies and those in development. Clinical Medicine, 21(3), 205–212. https://doi.org/10.7861/clinmed.2021-0232

Hernández Lozano, M., Fernández Hawrylak, M., & Grau Rubio, C. (2014). La terapia ocupacional en la enfermedad de Huntington: alargando la autonomía. TOG (A Coruña), 11(20), 1-16. https://dialnet.unirioja.es/descarga/articulo/4892255.pdf

Kwon, D. (2024). The next frontier for Huntington's cure: Precision medicine. Scientific American, 330(2), 42–47.

McColgan, P., & Tabrizi, S. J. (2021). Huntington's disease: A clinical review. European Journal of Neurology, 25(1), 24-34. https://doi.org/10.1111/ene.13413

McColgan, P., & Tabrizi, S. J. (2024). Huntington’s disease: A clinical and biological review. European Journal of Neurology, 31(1), e16050. https://doi.org/10.1111/ene.16050

Rodrigues, F. B., & Wild, E. J. (2024). Genetics and therapeutic advances in Huntington’s disease. The Lancet Neurology, 23(2), 188–201. https://doi.org/10.1016/S1474-4422(23)00405-6

Rodríguez Pupo, J. M., Díaz Rojas, Y. V., Rojas Rodríguez, Y., & Rodríguez Batista, Y. (2013). Actualización en enfermedad de Huntington. Revista Archivo Médico de Camagüey, 17(5), 546–557. http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1025-02552013000500005

Stoker, T. B., Mason, S. L., Greenland, J. C., & Barker, R. A. (2022). Huntington’s disease: Diagnosis and management. Practical Neurology, 22(1), 32–41. https://doi.org/10.1136/practneurol-2021-003065

Tabrizi, S. J., Schobel, S. A., Gantman, E. C., Mansbach, A., & Borowsky, B. (2022). A biological classification of Huntington's disease: The Integrated Staging System. The Lancet Neurology, 21(7), 632-644. https://doi.org/10.1016/S1474-4422(22)00120-X

Tabrizi, S. J., Schobel, S. A., Gantman, E. C., Mansbach, A., & Borowsky, B. (2024). A biological classification of Huntington's disease with implications for clinical trials: A 2024 update. The Lancet Neurology, 23(1), 12–14. https://doi.org/10.1016/S1474-4422(23)00424-X

Wild, E. J., & Tabrizi, S. J. (2025). Gene therapy appears to slow Huntington's disease progression. UCL News. https://www.ucl.ac.uk/news/2025/sep/gene-therapy-appears-slow-huntingtons-disease-progression

Zeun, P., et al. (2024). PCR protocols for CAG triplet repeat quantification in neurodegenerative diseases. Molecular Genetics & Genomic Medicine, 12(1), e2341. https://doi.org/10.1002/mgg3.2341

Downloads

Published

2026-06-05