Accumulation of Brain Hypointense Foci on Susceptibility-Weighted Imaging in Childhood Ataxia Telangiectasia

Dineen, Rob A.; Blanchard, Caroline C.V.; Pszczolkowski, Stefan; Paine, Simon; Prasad, Manish; Chow, Gabriel; Whitehouse, William P.; Auer, Dorothee P.

Abstract

Background and Purpose
Susceptibility-weighted imaging (SWI) hypointense cerebral lesions have been reported in adults with the inherited cerebellar neurodegenerative disorder ataxia telangiectasia (A-T). This study aims to establish the prevalence, age-dependency and spatial distribution of these lesions in children and young people with A-T.

Materials and Methods
Participants with classic A-T and matched controls underwent SWI acquisition at 3T at one or two time-points. SWI hypointense lesions were manually labelled according to the Microbleed Anatomical Rating Scale. Differences in prevalence of lesion number between A-T and non-A-T groups was tested with Fisher’s exact test, and differences in age between A-T participants with and without lesions were tested using independent samples Mann-Whitney U. The relationship between age and lesion number was modelled as an exponential function.

Results
Analysable SWI datasets from 17 participants with A-T (median age 12.4 [range 4.6-20.2] years; 47% female) and 22 matched healthy controls showed prevalence of SWI hypointense lesions in 41% of A-T participants and 0% in controls (p=0.001, Fisher’s exact test). Lesions were exclusively supratentorial and predominantly lobar. A-T participants with SWI hypointense lesions were older than those without (median 15.2 years versus 9.3 years, U=10.5, p=0.014). An exponential curve described the relationship between age and lesion number (R2 = 0.67).

Conclusion
SWI hypointense lesions are common in children and young people with A-T, accumulating from 12 years onwards. In contrast to cerebellar-dominant neurodegeneration in A-T, SWI hypointense lesions were exclusively supratentorial. Further investigation is needed to establish the clinical relevance of these imaging-detected lesions.

Citation

Dineen, R. A., Blanchard, C. C., Pszczolkowski, S., Paine, S., Prasad, M., Chow, G., …Auer, D. P. (2021). Accumulation of Brain Hypointense Foci on Susceptibility-Weighted Imaging in Childhood Ataxia Telangiectasia. American Journal of Neuroradiology, 42(6), 1144-1150. https://doi.org/10.3174/ajnr.a7107

• Journal Article Type: Article
• Acceptance Date: Dec 24, 2020
• Online Publication Date: Apr 8, 2021
• Publication Date: Jun 1, 2021
• Deposit Date: Jan 5, 2021
• Publicly Available Date: Jun 9, 2022
• Journal: American Journal of Neuroradiology
• Print ISSN: 0195-6108
• Electronic ISSN: 1936-959X
• Publisher: American Society of Neuroradiology
• Peer Reviewed: Peer Reviewed
• Volume: 42
• Issue: 6
• Pages: 1144-1150
• DOI: https://doi.org/10.3174/ajnr.a7107
• Keywords: Radiology Nuclear Medicine and imaging; Clinical Neurology
• Public URL: https://nottingham-repository.worktribe.com/output/5201581
• Publisher URL: http://www.ajnr.org/content/42/6/1144