Articulo
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Registro en:
1151383
1151383
Autor
Alonso-Jimenez, Alicia
Kroon, Rosemarie H M J M
Alejaldre-Monforte, Aida
Núñez-Peralta, Claudia
Horlings, Corinne G C
van Engelen, Baziel G M
Olive, Montse
González, Laura
Verges-Gil, Enric
Paradas, Carmen
Marquez, Celedonio
Garibaldi, Matteo
Gallano, Pia
González-Quereda, Lidia
Dominguez- González, Cristina
Vissing, John
Fornander, Freja
Eisum, Anne-Sofie Vibaek
García-Sobrino, Tania
Pardo, Julio
García-Figueiras, Roberto
Muelas, Nuria
Vilchez, Juan Jesús
Kapetanovic, Solange
Tasca, Giorgio
Monforte, Mauro
Ricci, Enzo
Gómez, María Teresa
Bevilacqua-Rivas, Jorge Alfredo
Díaz-Jara, Jorge
Zamorano, Ivonne Ingrid
Yves Carlier, Robert
Laforet, Pascal
Pelayo-Negro, Ana
Ramos-Fransi, Alba
Martínez, Amaia
Marini-Bettolo, Chiara
Straub, Volker
Gutierrez, Gerardo
Stojkovic, Tanya
Martin, María Asunción
Moris, Germán
Fernández-Torron, Roberto
López De Munain, Adolfo
Cortes-Vicente, Elena
Querol, Luis
Rojas-García, Ricardo
Illa, Isabel
Díaz-Manera, Jordi
Institución
Resumen
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. Regular 2015 FONDECYT FONDECYT