PT  - JOURNAL ARTICLE
AU  - R.A. Dineen
AU  - C.V. Blanchard
AU  - S. Pszczolkowski
AU  - S. Paine
AU  - M. Prasad
AU  - G. Chow
AU  - W.P. Whitehouse
AU  - D.P. Auer
TI  - Accumulation of Brain Hypointense Foci on Susceptibility-Weighted Imaging in Childhood Ataxia Telangiectasia
AID  - 10.3174/ajnr.A7107
DP  - 2021 Jun 01
TA  - American Journal of Neuroradiology
PG  - 1144--1150
VI  - 42
IP  - 6
4099  - http://www.ajnr.org/content/42/6/1144.short
4100  - http://www.ajnr.org/content/42/6/1144.full
SO  - Am. J. Neuroradiol.2021 Jun 01; 42
AB  - BACKGROUND AND PURPOSE: SWI hypointense cerebral lesions have been reported in adults with the inherited cerebellar neurodegenerative disorder ataxia telangiectasia. This study aims to establish the prevalence, age-dependency, and spatial distribution of these lesions in children and young people with ataxia telangiectasia.MATERIALS AND METHODS: Participants with classic ataxia telangiectasia and matched controls underwent SWI acquisition at 3T at 1 or 2 time points. SWI hypointense lesions were manually labeled according to the Microbleed Anatomical Rating Scale. Differences in prevalence of lesion number between groups with ataxia telangiectasia and without ataxia telangiectasia were tested with the Fisher exact test, and differences in age between participants with ataxia telangiectasia with and without lesions were tested using independent samples Mann-Whitney U test. The relationship between age and lesion number was modeled as an exponential function.RESULTS: Analyzable SWI datasets from 17 participants with ataxia telangiectasia (with median age at first scan of 12.4 years; range, 4.6–20.2 years; 8 [47%] were female) and 22 matched healthy controls showed prevalence of SWI hypointense lesions in 41% of participants with ataxia telangiectasia and 0% in controls (P = .001, Fisher exact test). Lesions were exclusively supratentorial and predominantly lobar. Participants with ataxia telangiectasia with SWI hypointense lesions were older than those without (median age 5.2 years versus 9.3 years, U = 10.5, P = .014). An exponential curve described the relationship between age and lesion number (R2 = 0.67).CONCLUSIONS: SWI hypointense lesions are common in children and young people with ataxia telangiectasia, accumulating from 12 years of age onward. In contrast to cerebellar-dominant neurodegeneration in ataxia telangiectasia, SWI hypointense lesions were exclusively supratentorial. Further investigation is needed to establish the clinical relevance of these imaging-detected lesions.A-Tataxia telangiectasiaATMataxia-telangiectasia mutatedCATNAPChildhood A-T Neuroimaging Assessment ProjectSWIsusceptibility weighted imaging