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Striato-cortical connectivity patterns predict clinical profiles in Huntington's disease

Title: Striato-cortical connectivity patterns predict clinical profiles in Huntington's disease
Authors: Paepe, Audrey E. de; Bikou, Vasiliki; Turan, Eylül; Perez Bellido, Alexis; Garcia-Gorro, Clara; Rodriguez Dechicha, Nadia; Vaquer Ricart, Irene; Calopa, Matilde; Diego Balaguer, Ruth de; Camara Mancha, Estela
Publication Year: 2025
Collection: Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB
Subject Terms: Huntington's disease; Individual differences; Clinical profiles; rs-fMRI; Principal component analysis
Description: BACKGROUND: Huntington's disease is an inherited neurodegenerative disorder affecting striato-cortical circuits, with significant heterogeneity in the severity and progression of symptoms and neurodegenerative patterns. OBJECTIVES: To identify how distinct functional striato-cortical connectivity signatures may predict clinical profiles in Huntington's disease. METHODS: Thirty-eight Huntington's disease gene expansion carriers underwent cross-sectional motor, cognitive, and behavioral assessments and multimodal MRI. Principal component analysis was employed to characterize Huntington's disease clinical profiles. Next, seed-based whole-brain functional connectivity maps were derived for three basal ganglia seeds (caudate nucleus, putamen, nucleus accumbens) to delineate cortico-striatal connections. Multiple linear regressions assessed relationships between resulting clinical profiles and seed-based resting-state functional connectivity maps. Finally, basal ganglia gray matter volumes were examined in relation to clinical profiles and connectivity. RESULTS: Principal component analysis identified two main clinical profiles in Huntington's disease: motor-cognitive and behavioral. Multiple linear regression models revealed distinct functional neural signatures associated with each profile. Motor-cognitive symptoms related with a divergent connectivity pattern, specifically decreased connectivity between the caudate and putamen with executive and premotor areas, in contrast to increased connectivity between the ventral nucleus accumbens and executive network regions. Meanwhile, the behavioral profile was linked to decreased connectivity in limbic networks. Basal ganglia atrophy was associated with increased nucleus accumbens-cortical connectivity as well as motor-cognitive symptom severity. CONCLUSIONS: Distinct Huntington's disease clinical profiles can be characterized by predominantly motor-cognitive or behavioral disturbances, each related with unique functional and structural brain signatures. This ...
Document Type: article in journal/newspaper
File Description: application/pdf
Language: English
ISBN: 978-2-02-011451-6; 2-02-011451-8
ISSN: 22131582
Relation: Instituto de Salud Carlos III FORT23/00032; Ministerio de Economía y Competitividad PI14/00834; Generalitat de Catalunya 2021/SGR-00352; Agencia Estatal de Investigación PID2020-114518RB-I00; Agencia Estatal de Investigación BFU2017-87109-P; NeuroImage. Clinical; Vol. 46 (2025), art. 103788; https://ddd.uab.cat/record/324681; urn:10.1016/j.nicl.2025.103788; urn:oai:ddd.uab.cat:324681; urn:pure_id:520357902; urn:pmid:40279872; urn:pmcid:PMC12264231; urn:scopus_id:105003147381; urn:articleid:22131582v46a103788; urn:oai:pubmedcentral.nih.gov:12264231
Availability: https://ddd.uab.cat/record/324681
Rights: open access ; Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. ; https://creativecommons.org/licenses/by-nc/4.0/
Accession Number: edsbas.45190847
Database: BASE