December 2022; 8 (6) Research ArticleOpen Access
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
View ORCID ProfileRaquel Baviera-Muñoz, Lidón Carretero-Vilarroig, View ORCID ProfileJuan Francisco Vázquez-Costa, Carlos Morata-Martínez, Marina Campins-Romeu, View ORCID ProfileNuria Muelas, View ORCID ProfileIsabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, View ORCID ProfileTeresa Sevilla, Juan J. Vilchez, Teresa Jaijo, View ORCID ProfileCarmen Espinós, Jose M. Millán, View ORCID ProfileLuis Bataller, Elena Aller
First published November 14, 2022, DOI: https://doi.org/10.1212/NXG.0000000000200038
Raquel Baviera-Muñoz
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Lidón Carretero-Vilarroig
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Juan Francisco Vázquez-Costa
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Carlos Morata-Martínez
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Marina Campins-Romeu
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Nuria Muelas
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Isabel Sastre-Bataller
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Irene Martínez-Torres
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Julia Pérez-García
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Rafael Sivera
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Teresa Sevilla
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Juan J. Vilchez
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Teresa Jaijo
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Carmen Espinós
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Jose M. Millán
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Luis Bataller
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Elena Aller
From the Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, Teresa Sevilla, Juan J. Vilchez, Teresa Jaijo, Carmen Espinós, Jose M. Millán, Luis Bataller, Elena Aller
Neurol Genet Dec 2022, 8 (6) e200038; DOI: 10.1212/NXG.0000000000200038
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- Figure 1 Diagnostic Flowchart and Genetic Results of the Studied Patients
- Figure 2 Family ATX-5, 2 Female Monozygotic Twins With Spastic Ataxia Had Compound Heterozygous Variants in POLR3A c.1909 + 22G > A and arr[GRCh37] 10q22.3(79781064_79782608)x1
(A) Both patients had typically abnormal dentition; (B) T2-weighted brain MRI (left) and fluid attenuated recovery (FLAIR) brain MRI (right) showing characteristic mild supratentorial and infratentorial white matter hyperintensities.
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