Diffusion tensor imaging reveals changes in non-fat infiltrated muscles in late onset Pompe disease.
6-Minute Walk Test
diffusion tensor imaging
glycogen storage disease type II
magnetic resonance imaging
muscle, skeletal
tractography
Journal
Muscle & nerve
ISSN: 1097-4598
Titre abrégé: Muscle Nerve
Pays: United States
ID NLM: 7803146
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
30
09
2019
revised:
03
07
2020
accepted:
07
07
2020
pubmed:
13
7
2020
medline:
28
11
2020
entrez:
13
7
2020
Statut:
ppublish
Résumé
MRI is a helpful tool for monitoring disease progression in late-onset Pompe disease (LOPD). Our study aimed to evaluate if muscle diffusion tensor imaging (mDTI) shows alterations in muscles of LOPD patients with <10% fat-fraction. We evaluated 6 thigh and 7 calf muscles (both legs) of 18 LOPD and 29 healthy controls (HC) with muscle diffusion tensor imaging (mDTI), T1w, and mDixonquant sequences in a 3T MRI scanner. The quantitative mDTI-values axial diffusivity (λ
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
541-549Subventions
Organisme : Genzyme
ID : GZ2015-11496
Pays : International
Organisme : Sanofi
Pays : International
Informations de copyright
© 2020 The Authors. Muscle & Nerve published by Wiley Periodicals LLC.
Références
Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci. 2014;6:1-14.
Schüller A, Wenninger S, Strigl-pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet Part C. 2012;9:80-88.
Carlier PG, Azzabou N, De Sousa PL, et al. Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients. J Inherit Metab Dis. 2015;38:565-572.
Carlier RY, Laforet P, Wary C, et al. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns. Neuromuscul Disord. 2011;21(11):791-799.
Do HV, Khanna R, Gotschall R. Challenges in treating Pompe disease: an industry perspective. Ann Transl Med. 2019;7(13):291-291.
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: the EMBASSY study. Mol Genet Metab. 2016;119(1-2):115-123.
Dixon WT. Simple Proton Spectroscopic lmaging. Radiology. 1984;153:189-194.
Horvath JJ, Austin SL, Case LE, et al. Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in pompe disease. Muscle Nerve. 2015;51(5):722-730.
Willis TA, Hollingsworth KG, Coombs A, et al. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One. 2013;8(8):6-12.
Figueroa-Bonaparte S, Segovia S, Llauger J, et al. Muscle MRI findings in childhood/adult onset pompe disease correlate with muscle function. PLoS One. 2016;11(10):1-19.
Morrow JM, Sinclair CDJ, Fischmann A, et al. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Lancet Neurol [Internet. 2016;15(1):65-77.
Carlier PG, Marty B, Scheidegger O, et al. Skeletal muscle quantitative nuclear magnetic resonance imaging and spectroscopy as an outcome measure for clinical trials. J Neuromuscul Dis. 2016;3(1):1-28. http://www.medra.org/servlet/aliasResolver?alias=iospress&doi=10.3233/JND-160145.
Budzik J-F, Balbi V, Verclytte S, Pansini V, Le TV, Cotten A. Diffusion tensor imaging in musculoskeletal disorders. Radiographics. 2014;34(3):E56-E72.
Damon B, Li K, Bryant ND. Magnetic resonance imaging of skeletal muscle disease. Handb Clin Neurol. 2016;136(3):827-842.
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(4):773-788.
Damon BM, Froeling M, Buck AKW, et al. Skeletal muscle diffusion tensor-MRI fiber tracking: rationale, data acquisition and analysis methods, applications and future directions. NMR Biomed. 2016;30(e3563):1-13.
Froeling M, Oudeman J, Strijkers GJ, et al. Muscle changes detected with diffusion-tensor imaging after long-distance running. Radiology. 2015;274(2):548-562.
Keller S, Wang ZJ, Aigner A, et al. Diffusion tensor imaging of dystrophic skeletal muscle: comparison of two segmentation methods adapted to chemical-shift-encoded water-fat MRI. Clin Neuroradiol. 2019;29(2):231-242.
Berry DB, Regner B, Galinsky V, Ward SR, Frank LR. Relationships between tissue microstructure and the diffusion tensor in simulated skeletal muscle. Magn Reson Med. 2018;80(1):317-329.
Rehmann R, Schlaffke L, Froeling M, et al. Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease). Eur Radiol. 2018;29(6):3224-3232.
American Thoracic Society. ATS statement: guidelines for the six-minute walk test. Am J Respir Care Med. 2002;166:111-117.
Troosters T, Gosselink R, Decramer M. Six minute walking distance in healthy elderly subjects. Eur Respir J. 1999;14(2):270-274.
Schlaffke L, Rehmann R, Froeling M, et al. Diffusion tensor imaging of the human calf: variation of inter- and intramuscle-specific diffusion parameters. J Magn Reson Imaging. 2017;46(4):1137-1148.
Veraart J, Novikov DS, Christiaens D, Ades-aron B, Sijbers J, Fieremans E. Denoising of diffusion MRI using random matrix theory. Neuroimage. 2016;142:394-406.
Veraart J, Sijbers J, Sunaert S, Leemans A, Jeurissen B. Weighted linear least squares estimation of diffusion MRI parameters: strengths, limitations, and pitfalls. Neuroimage. 2013;81:335-346.
Basser PJ, Pajevic S, Pierpaoli C, Duda J, Aldroubi A. In vivo fiber Tractography using DT-MRI data. Magn Reson Med. 2000;44:625-632.
Leemans A, Jeurissen B, Sijbers J, Jones D. ExploreDTI: a graphical toolbox for processing, analyzing, and visualizing diffusion MR data. Magn Reson Med. 2009;17(2):3537.
Ai T, Yu K, Gao L, et al. Diffusion tensor imaging in evaluation of thigh muscles in patients with polymyositis and dermatomyositis. Br J Radiol. 2014;87:20140261.
Li GD, Liang YY, Xu P, Ling J, Chen YM. Diffusion-tensor imaging of thigh muscles in Duchenne muscular dystrophy: correlation of apparent diffusion coefficient and fractional anisotropy values with fatty infiltration. Am J Roentgenol. 2016;206(4):867-870.
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.
Figueroa-Bonaparte S, Llauger J, Segovia S, et al. Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study. Sci Rep. 2018;8(1):1-11.
Van Der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010;362(15):1396-1406.
Van Zijl PCM, Jones CK, Ren J, Malloy CR, Sherry AD. MRI detection of glycogen in vivo by using chemical exchange saturation transfer imaging (glycoCEST). Proc Natl Acad Sci U S A. 2007;104(11):4359-4364.