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Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI

  • Diagnostic Neuroradiology
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Abstract

We describe MRI of the brain in 19 patients with ataxia-telangiectasia (AT) and correlate the appearances with the degree of neurologic deficit. We examined 10 male and nine female patients; 17 were aged between 2 and 12 years (mean 8 years) but a woman and her brother were 35 and 38 years old, and had a variant of AT. Ataxia was the first recognized sign of the disease in every patient. We detected the following patterns of cerebellar atrophy: in the youngest patient, aged 2 years, the study was normal; in the five next youngest patients 3–7 years of age, the lateral cerebellum and superior vermis showed the earliest changes of atrophy; and all but one of the other patients had moderate to marked diffuse atrophy of vermis and cerebellar hemispheres. There were 12 patients aged 9 years and above; one, who was normal, was 9 years old. The five patients who at the time of examination were unable to walk all had diffuse atrophy involving both vermis and cerebellar hemispheres.

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Fig. 1A–C.
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Authors and Affiliations

  1. Department of Radiology, University of Modena, Italy

    F. Tavani

  2. Department of Radiology, The Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA

    R. A. Zimmerman, R. Gatti & P. Bingham

  3. Department of Endocrinology, The Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA

    G. T. Berry

  4. Department of Immunology, The Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA

    K. Sullivan

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  1. F. Tavani
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  2. R. A. Zimmerman
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  3. G. T. Berry
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  4. K. Sullivan
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  5. R. Gatti
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  6. P. Bingham
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Correspondence to R. A. Zimmerman.

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Tavani, F., Zimmerman, R.A., Berry, G.T. et al. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology 45, 315–319 (2003). https://doi.org/10.1007/s00234-003-0945-9

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  • DOI: https://doi.org/10.1007/s00234-003-0945-9

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