Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
Por:
Dominguez-Gonzalez, C, Fernandez-Torron, R, Moore, U, de la Hoz, CPDF, Velez-Gomez, B, Cabezas, JA, Alonso-Perez, J, Gonzalez-Mera, L, Olive, M, Garcia-Garcia, J, Moris, G, Hernandez, JCL, Muelas, N, Servian-Morilla, E, Martin, MA, Diaz-Manera, J, Paradas, C
Publicada:
1 jul 2022
Ahead of Print:
1 mar 2022
Resumen:
Background and objective TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of progression is variable, and the prognosis is poor due to early and severe respiratory involvement. Early and accurate diagnosis is particularly important since a specific treatment is under development. This study aims to evaluate the diagnostic value of lower limb muscle MRI in adult patients with TK2d. Methods We studied a cohort of 45 genetically confirmed patients with mitochondrial myopathy (16 with mutations in TK2, 9 with mutations in other nuclear genes involved in mitochondrial DNA [mtDNA] synthesis or maintenance, 10 with single mtDNA deletions, and 10 with point mtDNA mutations) to analyze the imaging pattern of fat replacement in lower limb muscles. We compared the identified pattern in patients with TK2d with the MRI pattern of other non-mitochondrial genetic myopathies that share similar clinical characteristics. Results We found a consistent lower limb muscle MRI pattern in patients with TK2d characterized by involvement of the gluteus maximus, gastrocnemius medialis, and sartorius muscles. The identified pattern in TK2 patients differs from the known radiological involvement of other resembling muscle dystrophies that share clinical features. Conclusions By analyzing the largest cohort of muscle MRI from patients with mitochondrial myopathies studied to date, we identified a characteristic and specific radiological pattern of muscle involvement in patients with TK2d that could be useful to speed up its diagnosis.
Filiaciones:
Dominguez-Gonzalez, C:
Hosp Univ 12 Octubre, Neurol Dept, Neuromuscular Dis Unit, Madrid, Spain
Hosp 12 Octubre Res Inst Imas12, Madrid, Spain
Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain
Fernandez-Torron, R:
Hosp Donostia, Biodonostia Hlth Res Inst, Neurol Dept, Basque Hlth Serv,Neuromuscular Area,Doctor Begiri, Donostia San Sebastian, Spain
Moore, U:
Univ Newcastle, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
de la Hoz, CPDF:
Hosp Univ 12 Octubre, Neurol Dept, Neuromuscular Dis Unit, Madrid, Spain
Velez-Gomez, B:
Hosp Univ Virgen del Rocio, Neurol Dept, Neuromuscular Dis Unit, Inst Biomed Sevilla, Seville, Spain
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Cabezas, JA:
Hosp Univ Virgen del Rocio, Neurol Dept, Neuromuscular Dis Unit, Inst Biomed Sevilla, Seville, Spain
Alonso-Perez, J:
Univ Autonoma Barcelona, Neurol Dept, Neuromuscular Dis Unit, Hosp Santa Creu & St Pau, Bellaterra, Spain
Gonzalez-Mera, L:
IDIBELL Hosp Univ Bellvitge, Neurol Dept, Neuromuscular Dis Unit, Barcelona, Spain
Olive, M:
Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain
Univ Autonoma Barcelona, Neurol Dept, Neuromuscular Dis Unit, Hosp Santa Creu & St Pau, Bellaterra, Spain
Hosp Santa Creu & Sant Pau, Inst Recerca, Barcelona, Spain
Garcia-Garcia, J:
Univ Albacete, Dept Neurol Hosp, Albacete, Spain
Moris, G:
Hosp Univ Cent Asturias, Neuromuscular Dis Unit, Neurol Dept, Asturias, Spain
Hernandez, JCL:
Univ Nuestra Senora Candelaria, Neurol Dept Hosp, Tenerife, Spain
Muelas, N:
Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain
Hosp Univ & Politecn La Fe, Inst Invest Sanitaria La Fe, Neurol Dept, Neuromuscular Dis Unit,Neuromuscular & Ataxias Re, Valencia, Spain
Servian-Morilla, E:
Hosp Univ Virgen del Rocio, Neurol Dept, Neuromuscular Dis Unit, Inst Biomed Sevilla, Seville, Spain
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Martin, MA:
Hosp 12 Octubre Res Inst Imas12, Madrid, Spain
Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain
Hosp Univ 12 Octubre, Clin Biochem Dept, Mitochondrial Disorders Lab, Madrid, Spain
Diaz-Manera, J:
Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid, Spain
Univ Newcastle, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
Hosp Santa Creu & Sant Pau, Inst Recerca, Barcelona, Spain
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Clin Res Inst, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Paradas, C:
Hosp Univ Virgen del Rocio, Neurol Dept, Neuromuscular Dis Unit, Inst Biomed Sevilla, Seville, Spain
Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Hosp Univ Virgen del Rocio, Unidad Enfermedades Neuromusculares CSUR EURO NMD, Inst Biomed Sevilla, Seville, Spain
hybrid, All Open Access, Hybrid Gold
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