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Lookup NU author(s): Professor Giorgio TascaORCiD, Professor Chiara Marini Bettolo, Professor Volker StraubORCiD, Professor Jordi Diaz ManeraORCiD
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© Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ. Background and objective: Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data. Methods: We present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data. Results: Fatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively with disease duration and functional impairment. Conclusions: We have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue, adductor magnus and soleus can be helpful for differential diagnosis. The findings suggest the natural history of the disease from a radiological point of view. The information generated by this study is of high diagnostic value and important for clinical trial development.
Author(s): Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nunez-Peralta C, Horlings CGC, Van Engelen BGM, Olive M, Gonzalez L, Verges-Gil E, Paradas C, Marquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum A-SV, Garcia-Sobrino T, Pardo J, Garcia-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martinez A, Marini-Bettolo C, Straub V, Gutierrez G, Martin MA, Moris G, Fernandez-Torron R, Lopez De Munain A, Cortes-Vicente E, Querol L, Rojas-Garcia R, Illa I, Diaz-Manera J
Publication type: Article
Publication status: Published
Journal: Journal of Neurology, Neurosurgery and Psychiatry
Year: 2019
Volume: 90
Issue: 5
Pages: 576-585
Print publication date: 01/05/2019
Online publication date: 08/12/2018
Acceptance date: 19/11/2018
ISSN (print): 0022-3050
ISSN (electronic): 1468-330X
Publisher: BMJ Group
URL: https://doi.org/10.1136/jnnp-2018-319578
DOI: 10.1136/jnnp-2018-319578
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