【摘要】 目的报道常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病(CADASIL)患者的周围神经电生理和病理改变特点。方法 7例经病理和基因检查确诊的 CADASIL 患者,女性5例,男性2例。年龄在33～46岁之间,病程从4个月到3年不等。其中1例出现手套袜套样痛觉减退及四肢腱反射减弱。除1例有长期饮酒史外,所有被检者均无其他导致周围神经损害的危险因素。其中3例进行了周围神经电生理检查。7例患者均进行了腓肠神经活体组织的光镜和电镜检查。结果电生理检查显示1例患者的感觉和运动神经以及另1例患者的运动神经传导速度减慢。腓肠神经病理检查显示7例患者均出现轻到中度的有髓神经纤维脱失,6例出现薄髓鞘有髓神经纤维,4例出现个别小有髓神经纤维变性改变,3例伴随小有髓神经纤维的再生簇结构。1例可见血管周围少量炎细胞浸润,5例患者神经滋养动脉的血管平滑肌细胞出现脱失,2例出现增生改变,5例毛细血管基底膜肥厚。结论 CADASIL 周围神经病多存在亚临床的神经纤维脱失,髓鞘损害比较突出。周围神经的病理改变可能主要与组织缺血有关,不同 Notch3基因突变者周围神经损害程度存在差异。更多还原

【Abstract】 Objective To evaluate the peripheral neuropathy in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)in respect of neurophysiology,neuropathology and possible mechanism.Methods Seven patients were enrolled from various Chinese CADASIL families including 5 females and 2 males,with the onset of the disease at the age between 33 and 46 years old.Case 2 showed clinical signs of peripheral nerve involvement.In addition to over drinking in case 1,there were no risk factors for neuropathy in other 6 patients.Sural nerve biopsies were performed in all patients.Nerve conduction velocities were performed in 3 patients.Results Sensory and motor conduction velocity were decreased in case 2 and 3.Mild to moderate loss of myelinated fiber appeared in all patients.Thin myelinated fibers appeared in 6 patients.Regeneration cluster of myelinated fiber could be noted in 3 patients,mild axonal degeneration in 4 patients and mild perivascular infiltration in 1 patient.Vascular smooth muscle fiber degeneration appeared in 5 patients and proliferation in 2 patients. Capillary basal membrane thickness appeared in 5 patients.Conclusions Peripheral neuropathy in CADASIL is mostly subclinical.Myelin lesion is the main change.In addition to tissue ischemia which leads to the pathological changes in peripheral nerve,genetic factors might also play an important role in the pathological process.更多还原