RT Journal Article
SR Electronic
T1 White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia
JF Neurology Genetics
JO Neurol Genet
FD Lippincott Williams & Wilkins
SP e640
DO 10.1212/NXG.0000000000000640
VO 7
IS 6
A1 May Yung Tiet
A1 Stefania Nannoni
A1 Daniel Scoffings
A1 Katherine Schon
A1 Rita Horvath
A1 Hugh Stephen Markus
A1 Anke Erma Hensiek
YR 2021
UL http://ng.neurology.org/content/7/6/e640.abstract
AB 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.