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Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

Authors

  • Elisa Alonso MD,

    1. Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico
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  • Leticia Martínez-Ruano BS,

    1. Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico
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  • Irene De Biase MD, PhD,

    1. Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
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  • Christopher Mader MD,

    1. Medicine Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico
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  • Adriana Ochoa MS,

    1. Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico
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  • Petra Yescas MS,

    1. Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico
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  • Roxana Gutiérrez BS,

    1. Chemistry Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico
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  • Misti White BS,

    1. Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA
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  • Luís Ruano MD,

    1. Division of Neurology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico
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  • Marcela Fragoso-Benítez MD,

    1. Faculty of Medicine, Universidad La Salle, Mexico City, Mexico
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  • Tetsuo Ashizawa MD,

    1. Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA
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  • Sanjay I. Bidichandani MBBS, PhD,

    1. Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
    2. Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
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  • Astrid Rasmussen MD, PhD

    Corresponding author
    1. Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico
    2. Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
    • Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, 975 NE 10th St. BRC 458, Oklahoma City, Oklahoma 73104
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Abstract

Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1–3, 6–8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations. © 2007 Movement Disorder Society

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