4 results match your criteria: "Hospital Research Institute (imas12)[Affiliation]"
Comment on: Soft cerebellar signs unveil RARS2-related epilepsy.
Epileptic Disord
October 2024
Epilepsy Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain.
Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report.
Mitochondrion
May 2024
Neurology Department, Neuromuscular Disorders Unit, Hospital 12 de Octubre, Madrid 28041, Spain; Spanish Network for Biomedical Research in Rare Diseases (CIBERER), Madrid 28029, Spain; Mitochondrial and Neuromuscular Research Group '12 de Octubre', Hospital Research Institute (imas12), Madrid 28041, Spain. Electronic address:
Objectives: Thymidine kinase 2 deficiency (TK2d) is a rare autosomal recessive mitochondrial disorder. It manifests as a continuous clinical spectrum, from fatal infantile mitochondrial DNA depletion syndromes to adult-onset mitochondrial myopathies characterized by ophthalmoplegia-plus phenotypes with early respiratory involvement. Treatment with pyrimidine nucleosides has recently shown striking effects on survival and motor outcomes in the more severe infantile-onset clinical forms.
View Article and Find Full Text PDFClinical and Genetic Analysis of Patients With TK2 Deficiency.
Neurol Genet
April 2024
From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.
Objectives: Thymidine kinase 2 deficiency (TK2d) is a rare autosomal recessive disorder that stems from a perturbation of the mitochondrial DNA maintenance. Nucleoside treatment has recently shown promise as a disease-modifying therapy. TK2d was initially associated with rapidly progressive fatal myopathy in children featuring mitochondrial DNA depletion.
View Article and Find Full Text PDFDelayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
J Clin Med
May 2023
Neuromuscular Unit, Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Background: Congenital myasthenic syndromes (CMSs) and primary mitochondrial myopathies (PMMs) can present with ptosis, external ophthalmoplegia, and limb weakness.
Methods: Our method involved the description of three cases of CMS that were initially characterized as probable PMM.
Results: All patients were male and presented with ptosis and/or external ophthalmoplegia at birth, with proximal muscle weakness and fatigue on physical exertion.