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Novel TBK1 LoF variant in a family with upper motor neuron predominant motor neuron disease

  • M.R. Costa
    Correspondence
    Corresponding author at: Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Avenida Professor Egas Moniz 1649-035 Lisboa, Lisbon, Portugal.
    Affiliations
    Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal

    Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal
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  • M. Gromicho
    Affiliations
    Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal
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  • A.C. Pronto-Laborinho
    Affiliations
    Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal
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  • G. Miltenberger Miltényi
    Affiliations
    Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal
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  • M. de Carvalho
    Affiliations
    Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal

    Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal
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      Highlights

      • Tank-binding kinase 1 is a causal gene for familial Amyotrophic Lateral Sclerosis.
      • Phenotypes associated with Tank-binding kinase 1 mutations are heterogeneous.
      • Primary lateral sclerosis is a rare form of motor neuron disorder.
      • Tank-binding kinase 1 should be tested also in Primary lateral sclerosis phenotype with family history.

      Keywords

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