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Radiological Imaging in Ataxia Telangiectasia: a Review

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Abstract

The human genetic disorder ataxia telangiectasia (A-T) is characterised by neurodegeneration, immunodeficiency, radiosensitivity, cell cycle checkpoint defects, genomic instability and cancer predisposition. Progressive cerebellar ataxia represents the most debilitating aspect of this disorder. At present, there is no therapy available to cure or prevent the progressive symptoms of A-T. While it is possible to alleviate some of the symptoms associated with immunodeficiency and deficient lung function, neither the predisposition to cancer nor the progressive neurodegeneration can be prevented. Significant effort has focused on improving our understanding of various clinical, genetic and immunological aspects of A-T; however, little attention has been directed towards identifying altered brain structure and function using MRI. To date, most imaging studies have reported radiological anomalies in A-T. This review outlines the clinical and biological features of A-T along with known radiological imaging anomalies. In addition, we briefly discuss the advent of high-resolution MRI in conjunction with diffusion-weighted imaging, which enables improved investigation of the microstructural tissue environment, giving insight into the loss in integrity of motor networks due to abnormal neurodevelopmental or progressive neurodegenerative processes. Such imaging approaches have yet to be applied in the study of A-T and could provide important new information regarding the relationship between mutation of the ataxia telangiectasia mutated (ATM) gene and the integrity of motor circuitry.

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Abbreviations

A-T:

Ataxia telangiectasia

dMRI:

Diffusion magnetic resonance imaging

DTI:

Diffusion tensor imaging

GM:

Grey matter

HARDI:

High angular resolution diffusion imaging

MRI:

Magnetic resonance imaging

WM:

White matter

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Acknowledgments

We wish to acknowledge the A-T Children’s Project (USA) and BrAshA-T (Australia) for their funding support, Prof Roslyn Boyd of the Queensland Cerebral Palsy and Rehabilitation Research Centre for the provision of control participants in our study, Ms Kate Munro of the Neurosciences Department in the Queensland Royal Children’s Hospital for providing clinical support and Aiman Al Najjar and Anita Burns of the University of Queensland Centre of Advanced Imaging (CAI) for their assistance in acquisition of the MRI data.

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Authors and Affiliations

  1. School of Medicine, The University of Queensland, Brisbane, Australia

    Ishani Sahama

  2. Neurology, The Royal Children’s Hospital, Brisbane, Australia

    Kate Sinclair

  3. Commonwealth Scientific and Industrial Research Organisation, Centre for Computational Informatics, Level 5, UQ Health Sciences Building, RBWH, Herston, 4029, Brisbane, Australia

    Kerstin Pannek & Stephen Rose

  4. Queensland Institute of Medical Research, Royal Brisbane Hospital Campus, Brisbane, Australia

    Martin Lavin

  5. University of Queensland Centre for Clinical Research, Brisbane, Australia

    Martin Lavin

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  1. Ishani Sahama
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  2. Kate Sinclair
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  4. Martin Lavin
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  5. Stephen Rose
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Correspondence to Stephen Rose.

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Sahama, I., Sinclair, K., Pannek, K. et al. Radiological Imaging in Ataxia Telangiectasia: a Review. Cerebellum 13, 521–530 (2014). https://doi.org/10.1007/s12311-014-0557-4

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