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Background:
Systematic Review

Early Diagnosis of Huntington Disease: Insights from Magnetic Resonance Spectroscopy—A Systematic Review

by
Pablo S. Martínez Lozada
1,
José Duque Perez
1,2,
Ronney Celi Salinas
1,3,4,
Bryan Miranda Morales
1,
Juan Francisco Pazmiño Mesías
1,
Cecilia Alejandra García Ríos
5,
Jose A. Rodas
6,7 and
Jose E. Leon-Rojas
2,*
1
NeurALL Research Group, Quito 170157, Ecuador
2
Medical School, Universidad de las Américas (UDLA), Quito 170124, Ecuador
3
Medignosis, Research Department, Quito 170157, Ecuador
4
Christus Muguerza Hospital Alta Especialidad, Monterrey 64060, Mexico
5
Facultad Ciencias de la Salud, Universidad Nacional de Chimborazo, Riobamba 060108, Ecuador
6
School of Psychology, University College Dublin, D04 V1W8 Dublin, Ireland
7
Escuela de Psicología, Universidad Espíritu Santo, Samborondón 092301, Ecuador
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2024, 13(21), 6390; https://doi.org/10.3390/jcm13216390
Submission received: 23 September 2024 / Revised: 10 October 2024 / Accepted: 16 October 2024 / Published: 25 October 2024
(This article belongs to the Section Nuclear Medicine & Radiology)
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Abstract

Background/Objectives: Huntington’s disease (HD) is a fully penetrant neurodegenerative disease with a profound effect on quality of life. In recent years, there has been rapid growth in the description of its pathogenesis and diagnosis. Magnetic resonance spectroscopy (MRS) measurements can aid in the discrimination between premanifest Huntington’s disease (Pre-HD) and healthy control (HC) subjects to establish early supportive and symptomatic management. Our objective was to evaluate metabolic changes using MRS to shed light on its potential as a biomarker through a systematic review. Methods: We followed the PRISMA guidelines, extracting articles from PubMed, Scopus, and the Virtual Health Library. We included patients with pre-HD, HD, and HC subjected to MRS, reporting the concentration of metabolites in at least one brain region. Results: In the putamen, N-acetyl Aspartate (NAA) was significantly decreased in 77.9% and total NAA (tNAA) was decreased in 72.4% of cases; no significant difference was found in 27.5% (n = 19) of cases. Furthermore, when looking into HD vs. pre-HD in the putamen, tNAA and NAA were decreased in 100% of participants. In the caudate nucleus, NAA and creatine were significantly decreased in 100% of HD in comparison to pre-HD participants, whereas tNAA showed a significant decrease in only 50%. Conclusions: MRS can be a relevant tool for the early diagnosis of HD; potential objective biomarkers related to its onset and pathogenesis exist and show differences between controls, pre-HD and HD patients. However, an effort should be made to standardize MRS methodology and reporting in subsequent studies.
Keywords: Huntington disease; magnetic resonance spectroscopy; pre-symptomatic Huntington disease; neuroimaging Huntington disease; magnetic resonance spectroscopy; pre-symptomatic Huntington disease; neuroimaging

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MDPI and ACS Style

Martínez Lozada, P.S.; Duque Perez, J.; Celi Salinas, R.; Miranda Morales, B.; Pazmiño Mesías, J.F.; García Ríos, C.A.; Rodas, J.A.; Leon-Rojas, J.E. Early Diagnosis of Huntington Disease: Insights from Magnetic Resonance Spectroscopy—A Systematic Review. J. Clin. Med. 2024, 13, 6390. https://doi.org/10.3390/jcm13216390

AMA Style

Martínez Lozada PS, Duque Perez J, Celi Salinas R, Miranda Morales B, Pazmiño Mesías JF, García Ríos CA, Rodas JA, Leon-Rojas JE. Early Diagnosis of Huntington Disease: Insights from Magnetic Resonance Spectroscopy—A Systematic Review. Journal of Clinical Medicine. 2024; 13(21):6390. https://doi.org/10.3390/jcm13216390

Chicago/Turabian Style

Martínez Lozada, Pablo S., José Duque Perez, Ronney Celi Salinas, Bryan Miranda Morales, Juan Francisco Pazmiño Mesías, Cecilia Alejandra García Ríos, Jose A. Rodas, and Jose E. Leon-Rojas. 2024. "Early Diagnosis of Huntington Disease: Insights from Magnetic Resonance Spectroscopy—A Systematic Review" Journal of Clinical Medicine 13, no. 21: 6390. https://doi.org/10.3390/jcm13216390

APA Style

Martínez Lozada, P. S., Duque Perez, J., Celi Salinas, R., Miranda Morales, B., Pazmiño Mesías, J. F., García Ríos, C. A., Rodas, J. A., & Leon-Rojas, J. E. (2024). Early Diagnosis of Huntington Disease: Insights from Magnetic Resonance Spectroscopy—A Systematic Review. Journal of Clinical Medicine, 13(21), 6390. https://doi.org/10.3390/jcm13216390

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