Faculty of Medicine, University of Porto, Porto, Portugal.
Department of Neurology, Faculty of Medicine, University of Porto, Centro Hospitalar Universitário São João, Alameda Professor Hernâni Monteiro, 4200-319, Porto, Portugal.
J Neurol. 2019 Jul;266(7):1782-1788. doi: 10.1007/s00415-019-09331-y. Epub 2019 Apr 26.
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most frequent monogenic cause of cerebral ischemia, but reliable biomarkers to monitor the disease are lacking.
To evaluate cerebral autoregulation (CA), vasoreactivity (VR), and neurovascular coupling (NVC) in CADASIL patients through a battery of dynamic transcranial Doppler tests.
We screened our database for all pre-dementia CADASIL cases. We monitored cerebral blood flow velocity (CBFV) with transcranial Doppler, blood pressure, and expiratory carbon dioxide (CO) non-invasively. CA was assessed by transfer function from the spontaneous oscillations of blood pressure to CBFV, VR with inhalation of CO at 5%, and hyperventilation and NVC by the CBFV response to visual stimulation.
We included 27 CADASIL patients and 20 healthy controls with similar age and sexes. CA and VR were similar between groups. However, NVC was significantly affected in CADASIL patients, with lower magnitudes of CBFV upsurge (overshoot 19 ± 5 vs 26 ± 6%, p = 0.013; gain 12 ± 7 vs 17 ± 5%, p = 0.003) and altered time behavior during visual stimulation (natural frequency 0.18 ± 0.06 vs 0.24 ± 0.06 Hz, p = 0.005; rate time 0.7 ± 1.7 vs 2.7 ± 3.5 s, p = 0.025).
Our results express a primary and selective involvement of the neurovascular unit in CADASIL rather than a generalized cerebral vasomotor disturbance. Functional cerebrovascular testing could be useful in patient evaluation and monitoring.
伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是最常见的遗传性脑缺血病因，但缺乏可靠的疾病监测生物标志物。
通过一系列动态经颅多普勒检查评估 CADASIL 患者的脑自动调节（CA）、血管反应性（VR）和神经血管耦合（NVC）。
我们从数据库中筛选出所有痴呆前 CADASIL 病例。我们通过经颅多普勒监测脑血流速度（CBFV）、血压和呼气二氧化碳（CO）。通过血压自发性波动与 CBFV 的传递函数评估 CA，通过吸入 5%CO 和过度通气评估 VR，通过视觉刺激的 CBFV 反应评估 NVC。
我们纳入了 27 例 CADASIL 患者和 20 名年龄和性别相似的健康对照者。两组间 CA 和 VR 无差异。然而，CADASIL 患者的 NVC 明显受到影响，CBFV 上升幅度较小（超射 19±5%比 26±6%，p=0.013；增益 12±7%比 17±5%，p=0.003），且在视觉刺激期间的时间行为改变（固有频率 0.18±0.06 比 0.24±0.06Hz，p=0.005；反应时间 0.7±1.7 比 2.7±3.5s，p=0.025）。
我们的结果表明，CADASIL 中神经血管单元存在原发性和选择性受累，而不是普遍的脑血管运动障碍。功能性脑血管检查可能有助于患者评估和监测。
