Jang Sung Ho, Seo You Sung
Department of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University, 317-1, Daemyungdong, Namku, Taegu, 705-717, Republic of Korea.
BMC Neurol. 2015 Sep 28;15:176. doi: 10.1186/s12883-015-0434-x.
We report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), who showed injuries of the neural tracts, which was demonstrated by diffusion tensor tractography (DTT).
A 64-year-old male patient and seven age-matched control volunteers were recruited. Since approximately 1.5 years ago, he had felt mild weakness of the right arm and was diagnosed as CADASIL by the finding of the exon 11 mutation of the NOTCH3 gene approximately 10 months ago. T2-weighted and FLAIR brain MRI images obtained at admission showed high signal intensity lesions in the subcortical gray matter and periventricular white matter. He showed mild quadriparesis, mild dysarthria, mild cognitive impairment, and emotional problems. Diffusion tensor imaging was performed and nine neural tracts (corticospinal tract, corticobulbar tract, corticofugal tract from the supplementary motor area, corticofugal tract from the premotor cortex, thalmoprefrontal tract [TPT] to the dorsolateral prefrontal cortex, TPT to the ventrolateral prefrontal cortex, TPT to the orbitoprefrontal cortex, fornix, and cingulum) were reconstructed. Fractional anisotropy (FA), mean diffusivity (MD), and tract volume of each neural tract were measured. All neural tracts except for the left fornix showed at least one more abnormality in terms of DTT parameters (decrement of FA, increment of MD, or decrement of tract volume).
We demonstrated injuries of the neural tracts in a patient with CADASIL. It appears that clinical manifestations in this patient were related to injuries of the neural tracts.
我们报告了一名患有大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）的患者，其神经纤维束损伤通过弥散张量纤维束成像（DTT）得以证实。
招募了一名64岁男性患者和七名年龄匹配的对照志愿者。大约1.5年前，他感到右臂轻度无力，大约10个月前通过检测NOTCH3基因第11外显子突变被诊断为CADASIL。入院时获得的T2加权和液体衰减反转恢复序列（FLAIR）脑MRI图像显示皮质下灰质和脑室周围白质有高信号强度病变。他表现出轻度四肢瘫、轻度构音障碍、轻度认知障碍和情绪问题。进行了弥散张量成像，并重建了九条神经纤维束（皮质脊髓束、皮质延髓束、来自辅助运动区的皮质传出束、来自运动前皮质的皮质传出束、丘脑前额叶束[TPT]至背外侧前额叶皮质、TPT至腹外侧前额叶皮质、TPT至眶前额叶皮质、穹窿和扣带）。测量了每条神经纤维束的分数各向异性（FA）、平均扩散率（MD）和纤维束体积。除左侧穹窿外，所有神经纤维束在DTT参数方面至少还存在一项异常（FA降低、MD增加或纤维束体积减小）。
我们证实了一名CADASIL患者存在神经纤维束损伤。该患者的临床表现似乎与神经纤维束损伤有关。
