White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia.
Tiet, May Yung
Markus, Hugh Stephen
Hensiek, Anke Erma
Ovid Technologies (Wolters Kluwer Health)
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Tiet, M. Y., Nannoni, S., Scoffings, D., Schon, K., Horvath, R., Markus, H. S., & Hensiek, A. E. (2021). White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia.. Neurol Genet, 7 (6) https://doi.org/10.1212/NXG.0000000000000640
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.
M.Y.T. is supported by the Addenbrookes Charitable Trust (G103290). R.H. is a Wellcome Trust Investigator (109915/Z/15/Z), who receives support from the Medical Research Council (UK) (MR/N025431/1 and MR/V009346/1), the European Research Council (309548), the Newton Fund (UK/Turkey, MR/N027302/1), the Addenbrookes Charitable Trust (G100142), the Evelyn Trust, the Stoneygate Trust, the Lily Foundation and an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1. H.S.M. is supported by an NIHR Senior Investigator award. This research was supported by the NIHR Cambridge Biomedical Research Centre (BRC-1215-20014).
Addenbrooke's Charitable Trust (ACT) (64/17 A)
Wellcome Trust (109915/A/15/Z)
Lily Foundation (Unknown)
Medical Research Council (MR/N025431/2)
Wellcome Trust (109915_A_15_Z)
External DOI: https://doi.org/10.1212/NXG.0000000000000640
This record's URL: https://www.repository.cam.ac.uk/handle/1810/333081
Attribution 4.0 International
Licence URL: https://creativecommons.org/licenses/by/4.0/