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Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?

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Abstract

The SCA17 clinical phenotype includes characteristics associated with cerebellar and cortical atrophy such as ataxia, dementia, epilepsy, chorea and parkinsonian features. Here we describe the case of a 38-year-old male presenting with ataxia, cognitive impairment and seizures, who was found to carry 43 repeats on one allele of the TATA-binding protein (TBP) gene. Therefore, genetic analysis of TBP gene triplets was performed on the patient’s entire family, identifying three asymptomatic carriers of the same allele. A neuroradiological phenotype appeared to segregate with this allele, suggesting that it may play at least a contributory role in the determination of SCA17.

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Acknowledgments

We wish to thank Dr. Cinzia Gellera and Alessia Castucci (Biochemistry and Genetics, National Neurological Institute “C.Besta”, Milano, Italy) for performing part of the genetic testing.

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Authors and Affiliations

  1. Department of Neurology, S. Gerardo Hospital, Monza (MB), Italy

    L. Tremolizzo, N. A. Curtò, L. Marzorati, F. Lanzani & C. Ferrarese

  2. Department of Neuroscience and Biomedical Technologies, University of Milano-Bicocca, U8-via cadore 48, 20052, Monza (MB), Italy

    L. Tremolizzo, F. Lanzani & C. Ferrarese

  3. Institute of Neurological Sciences, National Research Council, Mangone (CS), Italy

    P. Tarantino & G. Annesi

Authors
  1. L. Tremolizzo
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  2. N. A. Curtò
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  3. L. Marzorati
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  4. F. Lanzani
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  5. P. Tarantino
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  6. G. Annesi
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  7. C. Ferrarese
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Correspondence to L. Tremolizzo.

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Tremolizzo, L., Curtò, N.A., Marzorati, L. et al. Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?. Neurol Sci 32, 941–943 (2011). https://doi.org/10.1007/s10072-011-0662-9

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  • DOI: https://doi.org/10.1007/s10072-011-0662-9

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