Cape Town - 2026 ISMRM-ISMRT Annual Meeting and Exhibition
9 May 2026 – 14 May 2026 · Cape Town, South Africa
367-03-008 ISMRM Abstract

Muscle Diffusion Tensor Imaging In Late-Onset Pompe Disease

Accepted
Giulia Guicciardi 1, Leonardo Barzaghi2, Matteo Paoletti2, Michele G Croce3, Thorsten Feiweier4, Francesco Santini5,6,7, Xeni Deligianni7,8, Niels Bergsland9, Chiara Bonizzoni2, Tiziana E Mongini10, Serena Gasperini11, Massimiliano Filosto12,13, Lorenzo Maggi14, Annalisa Sechi15, Marina Grandis16,17, Michele Sacchini18, Monica Sciacco19, Silvia Nicolosi2, Sabrina Ravaglia 20, Anna Pichiecchio2,3,21
1Department of Mathematics, University of Pavia, Pavia, Italy
2Advanced Imaging and Artificial Intelligence Center, Department of Neuroradiology, IRCCS Mondino Foundation, Pavia, Italy
3Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy
4MR Research and Clinical Translation, Siemens Healthineers AG, Erlangen, Germany
5University of Basel Hospital, Basel, Switzerland
6Radiology, Division of Radiological Physics, University Hospital of Basel, Basel, Switzerland
7Department of Biomedical Engineering, University of Basel, Basel, Switzerland
8Department of Radiology, Division of Radiological Physics, University of Basel Hospital, Basel, Switzerland
9University at Buffalo, Buffalo, United States of America
10Neuromuscular Unit, Department of Neurosciences, University of Turin, Turin, Italy
11Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
12Department Of Clinical And Experimental Sciences, University of Brescia, Brescia, Italy
13NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy
14Neuroimmunology And Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
15Regional Coordinating Center For Rare Diseases, University Hospital Of Udine, Udine, Italy
16Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Infantile Sciences, University of Genoa, Genoa, Italy
17IRCCS Ospedale Policlinico San Martino, Genoa, Italy
18Meyer Children's Hospital IRCCS, Firenze, Italy
19Neuromuscular and Rare Disease Unit, IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy
20IRCCS Mondino Foundation, Pavia, Italy
21University of Pavia, Pavia, Italy
Presenting Author: Giulia Guicciardi

Synopsis

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References

1. Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci. 2014 Jul 23;6:177. doi:10.3389/fnagi.2014.00177. PMID: 25183957; PMCID: PMC4135233. [doi] [pmid]
2. Schüller A, Wenninger S, Strigl-Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):80-8. doi:10.1002/ajmg.c.31322. Epub 2012 Jan 17. PMID: 22253010. [doi] [pmid]
3. Carlier PG, Azzabou N, de Sousa PL, Hicks A, Boisserie JM, Amadon A, Carlier RY, Wary C, Orlikowski D, Laforêt P. Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients. J Inherit Metab Dis. 2015 May;38(3):565-72. doi:10.1007/s10545-015-9825-9. Epub 2015 Mar 7. PMID: 25749708; PMCID: PMC4432102. [doi] [pmid]
4. van der Ploeg A, Carlier PG, Carlier RY, et al. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: theEMBASSY study. Mol Genet Metab. 2016;119(1–2):115-123. doi:10.1016/j.ymgme.2016.05.013. [doi]
5. Paoletti M, Pichiecchio A, Piccinelli SC, et al. Advances in quantitative imaging of genetic and acquired myopathies: clinical applications and perspectives. Front Neurol. 2019;10:78. doi:10.3389/fneur.2019.00078. [doi]
6. Oudeman J, Nederveen AJ, Strijkers GJ, Maas M, Luijten PR, Froeling M. Techniques and applications of skeletal muscle diffusion tensor imaging: a review. J Magn Reson Imaging. 2016;43:773-788. doi:10.1002/jmri.25016. [doi]
7. Barzaghi L, Paoletti M, Monforte M, Bortolani S, Bonizzoni C, Thorsten F, Bergsland N, Santini F, Deligianni X, Tasca G, Ballante E, Figini S, Ricci E, Pichiecchio A. Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2024 Aug;70(2):248-256. doi: 10.1002/mus.28179. Epub 2024 Jun 14. PMID: 38873946. [doi] [pmid]
8. Ponrartana S, Ramos-Platt L, Wren TAL, et al. Effectiveness of diffusion tensor imaging in assessing disease severity in Duchenne muscular dystrophy: preliminary study. Pediatr Radiol. 2015;45(4):582-589. doi: 10.1007/s00247-014-3187-6. [doi]
9. Rehmann R, Froeling M, Rohm M, Forsting J, Kley RA, Schmidt-Wilcke T, Karabul N, Meyer-Frießem CH, Vollert J, Tegenthoff M, Vorgerd M, Schlaffke L. Diffusion tensor imaging reveals changes in non-fat infiltrated muscles in late onset Pompe disease. Muscle Nerve. 2020 Oct;62(4):541-549. doi: 10.1002/mus.27021. Epub 2020 Jul 31. PMID: 32654203. [doi] [pmid]
10. Santini F, Wasserthal J, Agosti A, et al. Deep Anatomical Federated Network (Dafne): an open client/server framework for the continuous collaborative improvement of deep-learning-based medical image segmentation. 2023 doi: 10.48550/arXiv.2302.06352. [doi]
11. Smith DS, Berglund J, Kullberg J, Ahlström H, Avison MJ, Welch EB. Optimization of fat-water separation algorithm selection and options using image-based metrics with validation by ISMRM fat-water challenge datasets. Vol 63; 2010.
12. Weigel M. Extended phase graphs: dephasing, RF pulses, and echoes -pure and simple. J Magn Reson Imaging. 2015;41:266-295. doi: 10.1002/jmri.24619. [doi]
13. Santini F, Deligianni X, Paoletti M, et al. Fast open-source toolkit for water T2 mapping in the presence of fat from multi-Echo spin-Echo acquisitions for muscle MRI. Front Neurol. 2021;12:630387. doi: 10.3389/fneur.2021.630387. [doi]
14. Garyfallidis E, Brett M, Amirbekian B, et al. DIPY, a library for the analysis of diffusion MRI data. Front Neuroinform. 2014;8:8. doi: 10.3389/fninf.2014.00008. [doi]

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