White matter hyperintensities and cerebral microbleeds in Ataxia Telangiectasia
Tiet, May Yung
Hensiek, Anke E
Lippincott, Williams & Wilkins
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Tiet, M. Y., Nannoni, S., Scoffings, D., Schon, K., Horvath, R., Markus, H., & Hensiek, A. E. White matter hyperintensities and cerebral microbleeds in Ataxia Telangiectasia. Neurology Genetics https://doi.org/10.17863/CAM.76626
Objective: To systematically assess the occurrence of cerebral microbleeds (CMB) and white matter hyperintensities (WMH) 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. WMH were quantified on T2-FLAIR images using the semi-quantitative Modified-Scheltens and Fazekas scales and CMB on Susceptibility Weighted Imaging (SWI) and T2*-weighted Gradient Echo (GRE) sequences using the Brain Observer MicroBleed Scale. Results: CMBs were more frequently found in classic AT compared to variant AT (66.7% vs 5.9%) predominantly in cortical and subcortical regions. WMH were seen in 25 (73.5%) probands, CMB in 9 (31.0%). The burden of WMH increased with age and WMH were focused in periventricular and deep white matter regions. WMH were more frequently seen in variant than classic AT. Conclusions: This cohort study confirms that WMH and CMBs are a frequent finding in AT. Further longitudinal studies are required to understand how WMH and CMB relate to the neurodegeneration that occurs in AT and the predisposition to cerebral haemorrhage.
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)
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This record's DOI: https://doi.org/10.17863/CAM.76626
This record's URL: https://www.repository.cam.ac.uk/handle/1810/329178
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