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Article: White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia.

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

Neurology. Genetics

2021  Volume 7, Issue 6, Page(s) e640

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 ...

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.
Language English
Publishing date 2021-11-30
Publishing country United States
Document type Journal Article
ZDB-ID 2818607-2
ISSN 2376-7839
ISSN 2376-7839
DOI 10.1212/NXG.0000000000000640
Database MEDical Literature Analysis and Retrieval System OnLINE

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