Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type

Authors

  • José Berciano MD,

    Corresponding author
    1. Department of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain
    2. Department of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain
    • Service of Neurology, University Hospital “Marqués de Valdecilla” (UC), 39008 Santander, Spain
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  • Jon Infante MD,

    1. Department of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain
    2. Department of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain
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  • Antonio García MD,

    1. Department of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain
    2. Department of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain
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  • José Miguel Polo MD,

    1. Department of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain
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  • Victor Volpini MD,

    1. Department of Neurogenetics, Institut de Recerca Oncologica, Barcelona, Spain
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  • Onofre Combarros MD

    1. Department of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain
    2. Department of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain
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Abstract

Very late-onset Friedreich's ataxia (VLOFA) is characterized by symptomatic onset after 40 years of age and, usually, a benign phenotype. We describe a sporadic case with onset at 53 years of age and a novel VLOFA phenotype mimicking multiple system atrophy (MSA) of cerebellar type associated with minimal GAA1 expansion. We detected several atypical features for a diagnosis of MSA, which should alert to the possibility of an inherited ataxia. © 2005 Movement Disorder Society

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