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Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation

  • Author Footnotes
    1 These authors contributed equally to this work.
    Cristian R. Calandra
    Correspondence
    Corresponding author.
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Department of Neurology, Hospital El Cruce, Av. Calchaquí 5401, 1888, Florencio Varela, Buenos Aires, Argentina
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  • Author Footnotes
    1 These authors contributed equally to this work.
    Guadalupe Buda
    Footnotes
    1 These authors contributed equally to this work.
    Affiliations
    Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, Intendente Guiraldes 2160, C1428EGA, Ciudad Autónoma de Buenos Aires, Argentina
    Bitgenia, Alicia Moreau de Justo, 1750, Buenos Aires, Argentina
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  • Sebastian A. Vishnopolska
    Affiliations
    Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires. Ciudad Universitaria, Intendente Guiraldes 2160, C1428EGA, Ciudad Autónoma de Buenos Aires, Argentina
    Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Ciudad Universitaria, Intendente Guiraldes 2160, C1428EGA, Ciudad Autónoma de Buenos Aires, Argentina
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  • Jaen Oliveri
    Affiliations
    Department of Clinical Genetics, Hospital El Cruce, Florencio Varela, Buenos Aires, Argentina
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  • Federico A. Olivieri
    Affiliations
    Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Ciudad Universitaria, Intendente Guiraldes 2160, C1428EGA, Ciudad Autónoma de Buenos Aires, Argentina
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  • María I. Pérez Millán
    Affiliations
    Departamento de Fisiología y Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires. Ciudad Universitaria, Intendente Guiraldes 2160, C1428EGA, Ciudad Autónoma de Buenos Aires, Argentina
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  • German Biagioli
    Affiliations
    Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires. Ciudad Universitaria, Intendente Guiraldes 2160, C1428EGA, Ciudad Autónoma de Buenos Aires, Argentina
    Bitgenia, Alicia Moreau de Justo, 1750, Buenos Aires, Argentina
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  • Luis A. Miquelini
    Affiliations
    Servicio de Diagnóstico por Imágenes, Hospital Británico de Buenos Aires, Perdriel 74, C1280AEB, Buenos Aires, Argentina
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  • Alejandro L. Pellene
    Affiliations
    Unidad de Movimientos Anormales, Hospital Posadas, Avenida Presidente Arturo U. Illia s/n y Marconi Morón, B1684, El Palomar, Buenos Aires, Argentina
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  • Marcelo A. Marti
    Affiliations
    Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires. Ciudad Universitaria, Intendente Guiraldes 2160, C1428EGA, Ciudad Autónoma de Buenos Aires, Argentina
    Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Ciudad Universitaria, Intendente Guiraldes 2160, C1428EGA, Ciudad Autónoma de Buenos Aires, Argentina
    Bitgenia, Alicia Moreau de Justo, 1750, Buenos Aires, Argentina
    Search for articles by this author
  • Author Footnotes
    1 These authors contributed equally to this work.
      The eye-of-the-tiger (EOT) is a neuroradiologic sign observed on T2-weighted sequences that refers to a central high signal intensity in the anteromedial aspect of both globus pallidus (GP) and a surrounding low signal intensity due to excess iron deposition. Combining T2 and susceptibility-weighted images (SWI) allows an optimal characterization of iron accumulation. The EOT sign is considered almost pathognomonic of pantothenate kinase-associated neurodegeneration (PKAN) [
      • Lee J.H.
      • Gregory A.
      • Hogarth P.
      • Rogers C.
      • Hayflick S.J.
      Looking deep into the eye-of-the-tiger in pantothenate kinase-associated neurodegeneration.
      ].

      Keywords

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