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

Abstract

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 from the 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 ¼ .001, the 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 was 15.2 years versus 9.3 years, U ¼ 10.5, P ¼ .014). An exponential curve described the relationship between age and lesion number (R 2 ¼ 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 novel biomarker for Ataxia-Telangiectasia: Evaluating the lack of hypointensity of the dentate nuclei

“…The variable patterns of DN signal could assist in the differential diagnosis of genetic ataxias. Though a lack of DN hypointensity was previously reported in a classic A-T patient with extensive microbleeds, we have found no association between DN hypointensity and the degree of cerebral microbleeds or cerebral white matter changes in both classic and variant A-T subtypes (2,3).…”

“…We have previously reported microbleeds in supratentorial regions in A-T (2,3). Abnormal hypointensity of the DN has recently been reported in other genetic ataxias (4), including DNA repair disorder Ataxia with Oculomotor Apraxia (5,6).…”

Quality of life and neurological disability in children and young people with ataxia telangiectasia

“…Parent proxy questionnaires were administered to the parents of participants in both groups. After completion of the questionnaires, both A-T and HC children underwent an MRI scan as part of the CATNAP protocol, reported elsewhere [14,17].…”