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. 2021 Nov 30;7(6):e640.
doi: 10.1212/NXG.0000000000000640. eCollection 2021 Dec.

White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia

May Yung Tiet  1 , Stefania Nannoni  1 , Daniel Scoffings  1 , Katherine Schon  1 , Rita Horvath  1 , Hugh Stephen Markus  1 , Anke Erma Hensiek  1
Affiliations

White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia

May Yung Tiet et al. Neurol Genet. .

Abstract

Background and objectives: To systematically assess the occurrence of cerebral microbleeds (CMBs) and white matter hyperintensities (WMHs) in the largest published cohort of adults with ataxia-telangiectasia (AT).

Methods: We assessed 38 adults with AT (age range 18-55 years) including 15 classic and 23 variant AT, evaluated by two independent assessors. WMHs were quantified on T2-fluid attenuated inversion recovery images using the semiquantitative modified Scheltens and Fazekas scales and CMB on susceptibility-weighted imaging and T2*-weighted gradient echo sequences using the Brain Observer MicroBleed Scale.

Results: CMBs were more frequently found in classic AT compared with variant AT (66.7% vs 5.9%) predominantly in cortical and subcortical regions. WMHs were seen in 25 (73.5%) probands and CMBs in 9 (31.0%). The burden of WMHs increased with age, and WMHs were focused in periventricular and deep white matter regions. WMHs were more frequently seen in variant than classic AT.

Discussion: This cohort study confirms that WMHs and CMBs are a frequent finding in AT. Further longitudinal studies are required to understand how WMHs and CMBs relate to the neurodegeneration that occurs in AT and the predisposition to cerebral hemorrhage.

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Figures

Figure 1
Figure 1. White Matter Hyperintensities (Left) in a Patient With Variant AT at Age 22 Years; Cerebral Microbleeds (Right) in a Patient With Classic AT at Age 23 Years.
Figure 2
Figure 2. Heatmap Showing the Distribution of (A) White Matter Hyperintensities in Subjects With AT (Classic n = 12 and Variant n = 22). (B) Cerebral Microbleeds in Subjects With AT (Classic n = 12 and variant n = 17)
AT = ataxia-telangiectasia.
See this image and copyright information in PMC

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