Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Feb;14(1):99-115.
doi: 10.1007/s40120-024-00655-0. Epub 2024 Oct 7.

Huntington Disease Health Related Quality of Life, Function and Well Being: The Patient's Perspective

Jesús Pérez-Pérez  1   2   3 , Sofía García-López  4 , Tamara Fernández Valle  5 , Cèlia Painous  6 , Maria Rosa Querol-Pascual  7 , Pedro J García Ruiz  8 , Elena Bellosta Diago  9   10 , Esther Cubo Delgado  11 , Barbara Vives Pastor  12 , María Carmen Peiró Villaplana  13 , Idaira Martín Santana  14 , Marta Blázquez Estrada  15 , Matilde Calopa Garride  16 , Pablo Mir  17   18   19 , Carmen Álvarez  4 , Jorge Maurino  4 , Anna de Prado  20 , José Luis López-Sendón  21
Affiliations

Huntington Disease Health Related Quality of Life, Function and Well Being: The Patient's Perspective

Jesús Pérez-Pérez et al. Neurol Ther. 2025 Feb.

Erratum in

Abstract

Background: Limited information is available on patients' experience living with Huntington's disease (HD). The primary objective of this study was to assess the health-related quality of life and well being of patients with HD.

Methods: A non-interventional, cross-sectional study was conducted in 17 hospitals-based movement disorders units in Spain. Patients aged ≥ 18 years, genetically HD diagnosed [with a diagnostic confidence level score of 4, and an Independence Scale (IS) score ≥ 70] were included. The primary variables were the Huntington's Disease Health-related Quality of Life (HDQLIFE) scores and results of the Satisfaction with Life Scale (SWLS). Secondary outcomes include the Unified HD Rating Scale (UHDRS), Beck Hopelessness Scale (BHS), Stigma Scale for Chronic Illness (SSCI-8), Beck Depression Inventory-Fast Screen (BDI-FS) and Problem Behaviours Assessment for HD short Version (PBA-S).

Results: A total of 102 patients were included. The mean age (SD) was 53.1 (12.1) years and 56% were male. Most of the patients (99.0%) showed motor symptoms (87.3%), behavioural and psychiatric disturbances (59.8%), or cognitive impairment (20.6%). HDQLIFE domain score means (SD) includes concern with death and dying 45.97 (9.60) end-of-life planning 37.91 (8.84), and meaning and purpose 44.74 (9.05). SWLS score mean was 24.25 (7.33). Depressive symptoms were found in 37.4% of patients and moderate-to-severe feelings of hopelessness in 32.9%. The prevalence of stigma was 55.9% (n = 57).

Conclusion: HD impacted quality of life, with prevalent motor, psychiatric symptoms and cognitive impairment. Patient perspectives may provide complementary information to implement specific interventions.

Keywords: Depression; Health-related quality of life; Huntington disease; Patient-reported outcomes; Satisfaction with Life; Stigma.

PubMed Disclaimer

Conflict of interest statement

Declarations. Conflict of Interest: Sofía García-López, Carmen Álvarez and Jorge Maurino are Roche employees. Jesús Pérez Pérez, Tamara Fernández Valle, Cèlia Painous, María Rosa Querol Pascual, Pedro García-Ruiz Espiga, Elena Bellosta Diago, Esther Cubo Delgado, Bárbara Vives Pastor, María Carmen Peiró Vilaplana, Idaira Martín Santana, Marta Blázquez Estrada, Matilde Calopa Garride, Pablo Mir, Anna de Prado and José Luis López-Sendón declare no conflict of interest. JLS has served as a consultant or as an advisory committee member, unrelated to this research, from: La Roche ltd, Novartis ltd and UCB. Ethical Approval: The study was approved by the independent ethics committee CEIM of Hospital La Fe in Valencia. Code: ROC-HUN-2020-01 for Clinical Research and all patients provided written informed consent according to the Declaration of Helsinki.

Figures

Fig. 1
Fig. 1
Description of HDQLIFE scores in the defined domains
See this image and copyright information in PMC

References

    1. Sampaio CMD, Goetz CG, Schrag A. Rating scales in Parkinson’s disease: clinical practice and research. New York: Oxford University Press; 2012.
    1. Pringsheim T, Wiltshire K, Day L, et al. The incidence and prevalence of Huntington’s disease a systematic review and meta-analysis. Mov Disord. 2012;27(9):1083–91. - PubMed
    1. Winder JY, Roos RAC, Burgunder JM, Marinus J, Reilmann R. Interrater reliability of the unified Huntington’s disease rating scale-total motor score certification. Mov Disord Clin Pract. 2018;5(3):290–5. - PMC - PubMed
    1. Tabrizi SJ, Langbehn DR, Leavitt BR, et al. Biological and clinical manifestations of Huntington’s disease in the longitudinal TRACKHD study: cross-sectional analysis of baseline data. Lancet Neurol. 2009;8(9):791–801. - PMC - PubMed
    1. Basch E. The missing voice of patients in drug-safety reporting. N Engl J Med. 2010;362(10):865–9. - PMC - PubMed

LinkOut - more resources