TY - JOUR
T1 - Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
AU - Alonso-Jimenez, Alicia
AU - Kroon, Rosemarie H. M. J. M.
AU - Alejaldre-Monforte, Aida
AU - Nuñez-Peralta, Claudia
AU - Horlings, Corinne G. C.
AU - Van Engelen, Baziel G. M.
AU - Olivé, Montse
AU - González, Laura
AU - Verges-Gil, Enric
AU - Paradas, Carmen
AU - Márquez, Celedonio
AU - Garibaldi, Matteo
AU - Gallano, Pía
AU - Rodriguez, Maria José
AU - Gonzalez-Quereda, Lidia
AU - Dominguez Gonzalez, Cristina
AU - Vissing, John
AU - Fornander, Freja
AU - Eisum, Anne-Sofie Vibæk
AU - García-Sobrino, Tania
AU - Pardo, Julio
AU - García-Figueiras, Roberto
AU - Muelas, Nuria
AU - Vilchez, Juan Jesús
AU - Kapetanovic, Solange
AU - Tasca, Giorgio
AU - Monforte, Mauro
AU - Ricci, Enzo
AU - Gomez, María Teresa
AU - Bevilacqua, Jorge Alfredo
AU - Diaz-Jara, Jorge
AU - Zamorano, Ivonne Ingrid
AU - Carlier, Robert Yves
AU - Laforet, Pascal
AU - Pelayo-Negro, Ana
AU - Ramos-Fransi, Alba
AU - Martínez, Amaia
AU - Marini-Bettolo, Chiara
AU - Straub, Volker
AU - Gutiérrez, Gerardo
AU - Martín, María Asunción
AU - Morís, Germán
AU - Fernández-Torrón, Roberto
AU - Lopez De Munaín, Adolfo
AU - Cortes-Vicente, Elena
AU - Querol, Luis
AU - Rojas-García, Ricardo
AU - Illa, Isabel
AU - Diaz-Manera, Jordi
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - Neurology (clinical)
KW - OPMD
KW - Psychiatry and Mental Health
KW - Surgery
KW - muscle MRI
KW - muscular dystrophy
KW - oculopharyngeal muscular dystrophy
KW - outcome measures
KW - registro español de enfermedades neuromusculares (NMD-ES)
KW - Neurology (clinical)
KW - OPMD
KW - Psychiatry and Mental Health
KW - Surgery
KW - muscle MRI
KW - muscular dystrophy
KW - oculopharyngeal muscular dystrophy
KW - outcome measures
KW - registro español de enfermedades neuromusculares (NMD-ES)
UR - https://publicatt.unicatt.it/handle/10807/132054
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85058322154&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85058322154&origin=inward
U2 - 10.1136/jnnp-2018-319578
DO - 10.1136/jnnp-2018-319578
M3 - Article
SN - 0022-3050
VL - 90
SP - 576
EP - 585
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
IS - 5
ER -