Tiet May Yung, Nannoni Stefania, Scoffings Daniel, Schon Katherine, Horvath Rita, Markus Hugh Stephen, Hensiek Anke Erma
Department of Clinical Neurosciences (M.Y.T., S.N., K.S., R.H., H.S.M.), University of Cambridge; Department of Radiology (D.S.), Addenbrooke's Hospital; and National Clinic for Ataxia Telangiectasia, Papworth Hospital NHS Foundation Trust (A.E.H.), Cambridge, United Kingdom.
Neurol Genet. 2021 Nov 30;7(6):e640. doi: 10.1212/NXG.0000000000000640. eCollection 2021 Dec.
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).
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.
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.
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.
在已发表的最大规模的共济失调毛细血管扩张症（AT）成年患者队列中，系统评估脑微出血（CMB）和白质高信号（WMH）的发生情况。
我们评估了38例AT成年患者（年龄范围18 - 55岁），其中包括15例典型AT和23例变异型AT，由两名独立评估者进行评估。使用半定量改良的斯海尔滕斯和法泽卡斯量表在T2液体衰减反转恢复图像上对WMH进行量化，使用脑微出血观察量表在磁敏感加权成像和T2*加权梯度回波序列上对CMB进行评估。
与变异型AT相比，典型AT中更常发现CMB（66.7%对5.9%），主要位于皮质和皮质下区域。25例（73.5%）先证者出现WMH，9例（31.0%）出现CMB。WMH的负担随年龄增加，且WMH集中在脑室周围和深部白质区域。变异型AT比典型AT更常出现WMH。
这项队列研究证实，WMH和CMB在AT中很常见。需要进一步的纵向研究来了解WMH和CMB如何与AT中发生的神经退行性变以及脑出血易感性相关。
