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MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2

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Abstract

In this study, we used manual delineation of high-resolution magnetic resonance imaging (MRI) to determine the spatial and temporal characteristics of the cerebellar atrophy in spinocerebellar ataxia type 2 (SCA2). Ten subjects with SCA2 were compared to ten controls. The volume of the pons, the total cerebellum, and the individual cerebellar lobules were calculated via manual delineation of structural MRI. SCA2 showed substantial global atrophy of the cerebellum. Furthermore, the degeneration was lobule specific, selectively affecting the anterior lobe, VI, Crus I, Crus II, VIII, uvula, corpus medullare, and pons, while sparing VIIB, tonsil/paraflocculus, flocculus, declive, tuber/folium, pyramis, and nodulus. The temporal characteristics differed in each cerebellar subregion: (1) duration of disease: Crus I, VIIB, VIII, uvula, corpus medullare, pons, and the total cerebellar volume correlated with the duration of disease; (2) age: VI, Crus II, and flocculus correlated with age in control subjects; and (3) clinical scores: VI, Crus I, VIIB, VIII, corpus medullare, pons, and the total cerebellar volume correlated with clinical scores in SCA2. No correlations were found with the age of onset. Our extrapolated volumes at the onset of symptoms suggest that neurodegeneration may be present even during the presymptomatic stages of disease. The spatial and temporal characteristics of the cerebellar degeneration in SCA2 are region specific. Furthermore, our findings suggest the presence of presymptomatic atrophy and a possible developmental component to the mechanisms of pathogenesis underlying SCA2. Our findings further suggest that volumetric analysis may aid in the development of a non-invasive, quantitative biomarker.

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Acknowledgments

This work was supported by the Arnold-Chiari Foundation; the Robin Zee Fund; the Dana Foundation Program for Brain and Immuno-Imaging; the Research to Prevent Blindness Core Grant; and the National Institutes of Health [grant numbers 1K23EY015802, 5T32DC00023, 5T32MH019950, 5T32GM007057, R01 EY01849, 1R01NS056307, R01NS054255, 5RC1NS068897, 5R01EY019347, and 5R21NS059830]. We would also like to thank Elizabeth Murray for her technical assistance.

Conflict of Interest

There is no financial interest to disclose.

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Authors and Affiliations

  1. Department of Neurology, The Johns Hopkins University, School of Medicine, Baltimore, MD, 21287, USA

    Brian C. Jung, Annie X. Du, Jennifer L. Cuzzocreo, David S. Zee & Sarah H. Ying

  2. Department of Rheumatology, University of California Los Angeles, Los Angeles, CA, 90095, USA

    Soo I. Choi

  3. Department of Ophthalmology, The Johns Hopkins University, School of Medicine, Baltimore, MD, 21287, USA

    Howard S. Ying, David S. Zee & Sarah H. Ying

  4. Department of Electrical Engineering and Computer Science, Vanderbilt University, Nashville, TN, 37240, USA

    Bennett A. Landman

  5. Department of Biomedical Engineering, The Johns Hopkins University, School of Medicine, Baltimore, MD, 21287, USA

    Bennett A. Landman & Jerry L. Prince

  6. Department of Neurology, University of California Los Angeles, Los Angeles, CA, 90095, USA

    Susan L. Perlman, Robert W. Baloh & Arthur W. Toga

  7. Department of Otolaryngology-Head and Neck Surgery, The Johns Hopkins University, School of Medicine, Baltimore, MD, 21287, USA

    David S. Zee

  8. Department of Neuroscience, The Johns Hopkins University, School of Medicine, Baltimore, MD, 21287, USA

    David S. Zee

  9. Department of Electrical and Computer Engineering, The Johns Hopkins University, Baltimore, MD, 21218, USA

    Jerry L. Prince

  10. Department of Radiology, The Johns Hopkins University, School of Medicine, Baltimore, MD, 21287, USA

    Jerry L. Prince & Sarah H. Ying

  11. 600 N. Wolfe Street/Park 367D, Baltimore, MD, 21287, USA

    Sarah H. Ying

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  1. Brian C. Jung
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  2. Soo I. Choi
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  3. Annie X. Du
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  7. Susan L. Perlman
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  12. Sarah H. Ying
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Correspondence to Sarah H. Ying.

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Jung, B.C., Choi, S.I., Du, A.X. et al. MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2. Cerebellum 11, 272–279 (2012). https://doi.org/10.1007/s12311-011-0308-8

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  • DOI: https://doi.org/10.1007/s12311-011-0308-8

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