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Infantile Childhood Onset of Spinocerebellar Ataxia Type 2

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Abstract

Spinocerebellar ataxia type 2 (SCA2) is a late-onset autosomal dominant cerebellar ataxia caused by triplet CAG/CTG expansion in the ATX2 gene. The initial symptoms usually appear when subjects are in their 30s. Pediatric onset is less common and usually associated with larger triplet expansions. We here report the case of a 1-year-old girl who presented with facial dysmorphism, dystonic features, developmental delay, and retinitis pigmentosa. She was diagnosed as carrying an expanded CAG/CTG tract (92 repeats) before a molecular diagnosis of SCA2 was made in her father. Facial dysmorphism associated with developmental delay and retinitis pigmentosa in early childhood should prompt a careful family investigation for ataxia and study of ATX2.

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Acknowledgments

We thank Mrs. Catherine Wrenn for her valuable help in the English writing.

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None.

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Authors and Affiliations

  1. Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Via Francesco Faggiana 34, 00041, Latina, Italy

    Roberto Di Fabio, Francesco Pierelli & Carlo Casali

  2. Molecular Medicine, IRCCS Stella Maris, Pisa, Italy

    Filippo Santorelli & Alessandra Tessa

  3. Department of Neurosciences, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy

    Enrico Bertini, Martina Balestri & Laura Cursi

  4. Istituto Neurologico Mediterraneo Neuromed, Pozzilli, Italy

    Francesco Pierelli

Authors
  1. Roberto Di Fabio
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  2. Filippo Santorelli
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  3. Enrico Bertini
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  4. Martina Balestri
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  5. Laura Cursi
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  6. Alessandra Tessa
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  7. Francesco Pierelli
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  8. Carlo Casali
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Correspondence to Roberto Di Fabio.

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Di Fabio, R., Santorelli, F., Bertini, E. et al. Infantile Childhood Onset of Spinocerebellar Ataxia Type 2. Cerebellum 11, 526–530 (2012). https://doi.org/10.1007/s12311-011-0315-9

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  • DOI: https://doi.org/10.1007/s12311-011-0315-9

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