Preliminary observations of glucose metabolism dysregulation in pediatric Huntington’s disease
Our findings confirm localized cerebral hypometabolism in the basal ganglia of PHD patients, consistent with previous neuropathological reports. However, systemic biochemical indicators of glucose transport deficiency, including erythrocyte GLUT1 function and CSF glucose, were not significantly altered. While glucose dysregulation appears to be a feature of PHD brain pathology, our results do not support the use of metabolic interventions such as the ketogenic diet in the absence of confirmed GLUT1 dysfunction. Further studies in larger cohorts are warranted to better characterize the metabolic profile of PHD and guide therapeutic strategies.
Authors
- Federica Zibordi (ORCID: https://orcid.org/0000-0003-2940-5389)
- Antonio Spagarino
- Marco Moscatelli (ORCID: https://orcid.org/0000-0002-6745-474X)
- Federica Graziola (ORCID: https://orcid.org/0000-0003-1554-9517)
- Caterina Mariotti (ORCID: https://orcid.org/0000-0003-2405-3564)
- Federica Rachele Danti (ORCID: https://orcid.org/0000-0002-3732-4549)
- Giovanna Zorzi (ORCID: https://orcid.org/0000-0001-7041-5365)
- Martina Penzo
- Eleonora Minacapilli (ORCID: https://orcid.org/0009-0004-7345-6110)
Institutions
- University of Milan (IT)
- University of Ferrara (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-08-20
- DOI
- https://doi.org/10.3389/fneur.2025.1626275
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.91
Funders
- Fondazione Pierfranco e Luisa Mariani