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The “crab sign”: an imaging feature of spinocerebellar ataxia type 48

  • Diagnostic Neuroradiology
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Abstract

Purpose

A new form of autosomal dominant hereditary spinocerebellar ataxia (SCA) has been recently described (SCA48), and here we investigate its conventional MRI findings to identify the presence of a possible imaging feature of this condition.

Methods

In this retrospective observational study, we evaluated conventional MRI scans from 10 SCA48 patients (M/F = 5/5; 44.7 ± 7.8 years). For all subjects, atrophy of both supratentorial and infratentorial compartments were recorded, as well as the presence of possible T2-weighted imaging (T2WI) signal alterations.

Results

In SCA48 patients, no meaningful supratentorial changes were found, both in terms of volume loss or MRI signal changes. Atrophy of the cerebellum was present in all cases, involving both the vermis and the hemispheres, but particularly affecting the postero-lateral portions of the cerebellar hemispheres. In all patients, with the exception of only one subject (90.0% of the cases), a T2WI hyperintensity of both dentate nuclei was found. The association of such signal alteration with the pattern of cerebellar atrophy resembled the appearance of a crab (“crab sign”).

Conclusion

Our findings suggest that SCA48 patients are characterized by cerebellar atrophy, mainly involving the postero-lateral hemisphere areas, along with a T2WI hyperintensity of dentate nuclei. We propose that the association of such signal change, along with the atrophy of the lateral portion of the cerebellar hemispheres, resembled the appearance of a crab, and therefore, we propose the “crab sign” as a neuroradiological sign present in SCA48 patients.

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Acknowledgements

The authors would like to thank Giuseppe De Michele, MD, Alessandro Filla, MD, Filippo Maria Santorelli, MD, PhD, and Gabriella Silvestri, MD, PhD, for all the insightful suggestions provided during the preparation of this manuscript.

Funding

No funding was received for this study.

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Authors and Affiliations

  1. Department of Advanced Biomedical Sciences, University “Federico II”, Naples, Italy

    Sirio Cocozza, Giuseppe Pontillo, Teresa Perillo, Elvira Guerriero, Lorenzo Ugga & Arturo Brunetti

  2. Department of Neurosciences and Reproductive and Odontostomatological Sciences, University “Federico II”, Naples, Italy

    Giovanna De Michele, Elena Salvatore & Francesco Saccà

  3. Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy

    Daniele Galatolo

  4. Area of Neuroscience, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy

    Vittorio Riso

  5. Institute of Biostructure and Bioimaging, National Research Council, Naples, Italy

    Mario Quarantelli

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  1. Sirio Cocozza
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  3. Giovanna De Michele
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Correspondence to Sirio Cocozza.

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Conflict of interest

S.C. received fees for speaking from Genzyme and Shire, fees for adv. board from Amicus. All other authors declare that they have no conflict of interest.

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All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Cocozza, S., Pontillo, G., De Michele, G. et al. The “crab sign”: an imaging feature of spinocerebellar ataxia type 48. Neuroradiology 62, 1095–1103 (2020). https://doi.org/10.1007/s00234-020-02427-7

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