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Unraveling Brainstem Deformations in Joubert Syndrome: A Statistical Shape Analysis of MRI-Derived Structures

Title: Unraveling Brainstem Deformations in Joubert Syndrome: A Statistical Shape Analysis of MRI-Derived Structures
Authors: Maccarone F.; Longari G.; Arrigoni F.; Peruzzo D.; Melzi S.
Contributors: Gee, JC; Alexander, DC; Hong, J; Iglesias, JE; Sudre, CH; Venkataraman, A; Golland, P; Kim, JH; Park, J; Maccarone, F; Longari, G; Arrigoni, F; Peruzzo, D; Melzi, S
Publisher Information: Springer Science and Business Media Deutschland GmbH
Publication Year: 2026
Collection: Università degli Studi di Milano-Bicocca: BOA (Bicocca Open Archive)
Subject Terms: 3D Shape Matching; Brainstem Deformation; Statistical Shape Analysi
Description: Statistical shape analysis (SSA) is a powerful tool for studying anatomical structures and their geometric variations in medical imaging. In this work, we analyze real MRI-derived data to explore correlations between geometric deformations and Joubert syndrome (JS). Building on prior SSA research, we tailor the preprocessing pipeline to an in-house dataset and perform a detailed shape variability analysis using principal component analysis (PCA). A random forest classifier is then applied, achieving high classification accuracy. To ensure robustness, we test multiple train-test splits and evaluate their impact. In addition, we support clinical interpretation by providing visualizations that combine 3D and 2D information, resembling typical diagnostic paradigms on MRI planes. Our work offers some methodological insights into shape-based analysis and aims to serve as a practical tool for the medical community. Code and data are openly available at: https://github.com/Franca-exe/SSA-brainstem.
Document Type: conference object
File Description: STAMPA
Language: English
Relation: info:eu-repo/semantics/altIdentifier/isbn/9783032051844; info:eu-repo/semantics/altIdentifier/wos/WOS:001596398400063; ispartofbook:Medical Image Computing and Computer Assisted Intervention – MICCAI 2025. 28th International Conference, Daejeon, South Korea, September 23–27, 2025, Proceedings, Part XIV; 28th International Conference MICCAI 2025 - September 23–27, 2025; volume:15973 LNCS; firstpage:659; lastpage:669; numberofpages:11; serie:LECTURE NOTES IN COMPUTER SCIENCE; alleditors:Gee, JC; Alexander, DC; Hong, J; Iglesias, JE; Sudre, CH; Venkataraman, A; Golland, P; Kim, JH; Park, J; https://hdl.handle.net/10281/590822
DOI: 10.1007/978-3-032-05185-1_63
Availability: https://hdl.handle.net/10281/590822; https://doi.org/10.1007/978-3-032-05185-1_63
Rights: info:eu-repo/semantics/openAccess ; license:Altro ; license uri:other-oa
Accession Number: edsbas.C72C332B
Database: BASE