Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study
Abstract
BACKGROUND: Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. OBJECTIVES: We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B deficiency, and motor symptom progression. METHODS: In this monocentric case-control study, 77 HD patients were prospectively included between January 2020 and June 2023 at Nancy University Hospital. As controls, biological data were obtained retrospectively from 87 individuals referred to the Metabolic Medicine Department between January 2017 and February 2025. HD patients underwent clinical (Unified Huntington Disease Rating Scale-Motor) and biochemical (vitamin B and homocysteine levels) evaluations. Fisher's exact test, Wilcoxon test, or Student's t-test were used, with P < 0.05 considered significant. RESULTS: HD patients-both symptomatic and premanifest-had significantly higher homocysteine levels than did controls. Hyperhomocysteinemia was found in 36 patients (≈48%) and was associated with faster motor progression (P < 0.001). CONCLUSIONS: Hyperhomocysteinemia appears to be frequent in HD patients and may represent a risk factor contributing to phenotypic variability. These findings support a potential link between altered one-carbon metabolism and HD. Further longitudinal and mechanistic studies are needed to clarify the clinical and pathophysiological relevance of homocysteine metabolism in HD and to determine whether targeting hyperhomocysteinemia could have therapeutic implications. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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BibTeX
@article{puisieux2026hyperhomocysteinemia,
title = {{Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study}},
author = {Salomé Puisieux and Elise Pourié and Céline Bonnet and Lucie Hopes and Solène Frismand and Myriam Bronner and Virginie Roth and Marion Wandzel and Natacha Sloboda and Laëtitia Lambert and Abderrahim Oussalah and Amélia Julien and Irina Rotaru and Rosa-Maria Guéant-Rodriguez and Jean-Louis Guéant and Carine Bossenmeyer-Pourié and Mathilde Renaud},
journal = {Movement Disorders},
year = {2026},
month = jul,
doi = {10.1002/mds.70413},
url = {https://hal.science/hal-05743875v1},
note = {CC BY},
}
RIS
TY - JOUR
TI - Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study
AU - Salomé Puisieux
AU - Elise Pourié
AU - Céline Bonnet
AU - Lucie Hopes
AU - Solène Frismand
AU - Myriam Bronner
AU - Virginie Roth
AU - Marion Wandzel
AU - Natacha Sloboda
AU - Laëtitia Lambert
AU - Abderrahim Oussalah
AU - Amélia Julien
AU - Irina Rotaru
AU - Rosa-Maria Guéant-Rodriguez
AU - Jean-Louis Guéant
AU - Carine Bossenmeyer-Pourié
AU - Mathilde Renaud
PY - 2026
DA - 2026/07/01
JO - Movement Disorders
DO - 10.1002/mds.70413
UR - https://hal.science/hal-05743875v1
AB - BACKGROUND: Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. OBJECTIVES: We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B deficiency, and motor symptom progression. METHODS: In this monocentric case-control study, 77 HD patients were prospectively included between January 2020 and June 2023 at Nancy University Hospital. As controls, biological data were obtained retrospectively from 87 individuals referred to the Metabolic Medicine Department between January 2017 and February 2025. HD patients underwent clinical (Unified Huntington Disease Rating Scale-Motor) and biochemical (vitamin B and homocysteine levels) evaluations. Fisher's exact test, Wilcoxon test, or Student's t-test were used, with P < 0.05 considered significant. RESULTS: HD patients-both symptomatic and premanifest-had significantly higher homocysteine levels than did controls. Hyperhomocysteinemia was found in 36 patients (≈48%) and was associated with faster motor progression (P < 0.001). CONCLUSIONS: Hyperhomocysteinemia appears to be frequent in HD patients and may represent a risk factor contributing to phenotypic variability. These findings support a potential link between altered one-carbon metabolism and HD. Further longitudinal and mechanistic studies are needed to clarify the clinical and pathophysiological relevance of homocysteine metabolism in HD and to determine whether targeting hyperhomocysteinemia could have therapeutic implications. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
SN - 0885-3185
SN - 1531-8257
ER -