دورية أكاديمية
أعرض في EDS

Multisystemic RFC1 -Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

التفاصيل البيبلوغرافية
العنوان: Multisystemic RFC1 -Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
المؤلفون: Malaquias MJ; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Braz L; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Santos Silva C; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Damásio J; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Jorge A; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Lemos JM; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Campos CF; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Garcez D; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Oliveira Santos M; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Velon AG; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Caetano A; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Calejo M; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Fernandes P; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Rego Â; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Castro S; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Sousa AP; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Cardoso MN; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Fernandes M; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Pinto MM; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Taipa R; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Lopes AM; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Oliveira J; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal., Magalhães M; Department of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.
مؤلفون مشاركون: for RFC1 Repeat Expansion National Study Group
المصدر: Neurology. Clinical practice [Neurol Clin Pract] 2023 Oct; Vol. 13 (5), pp. e200190. Date of Electronic Publication: 2023 Sep 05.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101577149 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2163-0402 (Print) Linking ISSN: 21630402 NLM ISO Abbreviation: Neurol Clin Pract Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Hagerstown, MD : Lippincott Williams & Wilkins
مستخلص: Background and Objectives: The RFC1 spectrum has become considerably expanded as multisystemic features beyond the triad of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) have started to be unveiled, although many still require clinical replication. Here, we aimed to clinically characterize a cohort of RFC1 -positive patients by addressing both classic and multisystemic features. In a second part of this study, we prospectively assessed small nerve fibers (SNF) and autonomic function in a subset of these RFC1 -related patients.
Methods: We retrospectively enrolled 67 RFC1-positive patients from multiple neurologic centers in Portugal. All patients underwent full neurologic and vestibular evaluation, as well as neuroimaging and neurophysiologic studies. For SNF and autonomic testing (n = 15), we performed skin biopsies, quantitative sensory testing, sudoscan, sympathetic skin response, heart rate deep breathing, and tilt test.
Results: Multisystemic features beyond CANVAS were present in 82% of the patients, mainly chronic cough (66%) and dysautonomia (43%). Other features included motor neuron (MN) affection and motor neuropathy (18%), hyperkinetic movement disorders (16%), sleep apnea (6%), REM and non-REM sleep disorders (5%), and cranial neuropathy (5%). Ten patients reported an inverse association between cough and ataxia severity. A very severe epidermal denervation was found in skin biopsies of all patients. Autonomic dysfunction comprised cardiovascular (67%), cardiovagal (54%), and/or sudomotor (50%) systems.
Discussion: The presence of MN involvement, motor neuropathy, small fiber neuropathy, or extrapyramidal signs should not preclude RFC1 testing in cases of sensory neuronopathy. Indeed, the RFC1 spectrum can overlap not only with multiple system atrophy but also with hereditary motor and sensory neuropathy, hereditary sensory and autonomic neuropathy, and feeding dystonia phenotypes. Some clinical-paraclinical dissociations can pose diagnostic challenges, namely large and small fiber neuropathy and sudomotor dysfunction which are usually subclinical.
Competing Interests: The authors report no relevant disclosures. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.
(© 2023 American Academy of Neurology.)
References: Clin Neurophysiol. 2022 Oct;142:68-74. (PMID: 35970061)
Brain. 2022 Apr 29;145(3):1139-1150. (PMID: 35355059)
Brain. 2022 Jun 30;145(6):2121-2132. (PMID: 34927205)
Brain. 2020 Sep 1;143(9):2673-2680. (PMID: 32851396)
Brain. 2020 Feb 1;143(2):480-490. (PMID: 32040566)
J Neurol. 2021 Nov;268(11):4280-4290. (PMID: 33884451)
Neurology. 2014 Apr 22;82(16):1410-5. (PMID: 24682971)
Neurology. 2021 Mar 2;96(9):e1369-e1382. (PMID: 33495376)
Neurol Genet. 2022 Aug 29;8(5):e200016. (PMID: 36046423)
Biomedicines. 2022 Aug 22;10(8):. (PMID: 36009593)
Brain Pathol. 2022 Jul;32(4):e13051. (PMID: 35001451)
Neurology. 2006 Jun 13;66(11):1717-20. (PMID: 16769946)
Mov Disord. 2021 Nov;36(11):2634-2641. (PMID: 34241918)
Brain. 2020 Oct 1;143(10):2904-2910. (PMID: 33103729)
Curr Opin Neurol. 2021 Aug 1;34(4):556-564. (PMID: 34227574)
Arch Neurol. 2006 Apr;63(4):553-5. (PMID: 16606768)
Ann N Y Acad Sci. 2011 Sep;1233:139-47. (PMID: 21950986)
Clin Neurophysiol. 2022 Feb;134:34-36. (PMID: 34968871)
Acta Med Port. 2015 Jan-Feb;28(1):51-5. (PMID: 25817498)
Nat Genet. 2019 Apr;51(4):649-658. (PMID: 30926972)
Brain. 2021 Jun 22;144(5):1542-1550. (PMID: 33969391)
Mov Disord. 2022 Oct;37(10):2122-2128. (PMID: 35877029)
J Hum Genet. 2020 Dec;65(12):1143-1147. (PMID: 32694621)
Diabet Med. 2009 Mar;26(3):240-6. (PMID: 19317818)
Eur J Neurol. 2022 Jul;29(7):2156-2161. (PMID: 35253317)
Mov Disord Clin Pract. 2016 Apr 05;4(1):46-48. (PMID: 30363403)
تواريخ الأحداث: Date Created: 20230907 Latest Revision: 20230908
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC10479936
DOI: 10.1212/CPJ.0000000000200190
PMID: 37674869
قاعدة البيانات: MEDLINE
الوصف
تدمد:2163-0402
DOI:10.1212/CPJ.0000000000200190