Discriminative clinical and neuroimaging features of motor-predominant hereditary diffuse leukoencephalopathy with axonal spheroids and primary progressive multiple sclerosis: A preliminary cross-sectional study
Discriminative clinical and neuroimaging features of motor-predominant hereditary diffuse leukoencephalopathy with axonal spheroids and primary progressive multiple sclerosis: A preliminary cross-sectional study
复制标题
运动为主的遗传性弥漫性白质脑病伴轴突球体和原发性进行性多发性硬化症的临床和神经影像学特征鉴别：初步横断面研究
DOI：
10.1016/j.msard.2019.03.008
复制
发表时间：
2019
影响因子：
4
通讯作者：
Kira J.
中科院分区：
文献类型：
--
作者：
Saitoh B;Yamasaki R;Hiwatashi A;Matsushita T;Hayashi S;Mitsunaga Y;Maeda Y;Isobe N;Yoshida K;Ikeda S;Kira J.
遗传性弥漫性白质脑病伴轴突球体（HDLS）是一种罕见的常染色体显性白色物质疾病，以幼年期认知功能减退和额顶叶白色物质损害为特征。一部分HDLS患者表现出优先运动功能障碍作为其初始症状，模仿多发性硬化症（MS）。然而，没有研究比较HDLS和原发性进行性多发性硬化症（PPMS）的这种表型，它们彼此非常相似。这是第一个初步研究，以澄清的临床和神经影像学特征的电机为主的HDLS，并比较它与PPMS，使用的情况whosecolony刺激因子1受体（CSF 1 R）sequenced.MethodsClinical和放射学数据从日本患者在神经科，九州大学医院，福冈，日本，进行了回顾性和横断面评估。29脑和18脊髓磁共振成像（MRI）扫描从四个电机为主的HDLS患者与CSF 1 R突变和15 PPMS患者withoutCSF 1 R突变，进行了评估，使用HDLS MRI评分system.ResultsTwo HDLS患者最初诊断为MS和接受免疫治疗。临床上，运动型HDLS和PPMS患者在发病年龄和残疾方面彼此相似。然而，运动为主的HDLS患者有一个显着较高的频率额释放迹象，寡克隆IgG带（OCB）的阳性率较低，和较低的IgG指数值。两种疾病的总HDLS MRI评分、总白色病变（WML）和脑萎缩相似。然而，与PPMS患者相比，运动型HDLS患者的胼胝体（CC）体萎缩更明显，额顶叶深部和皮质下区域的WML更多，枕颞侧脑室周围区域的WML更少，MRI上的弥散性病变更多。HDLS的病程和CC指数之间有较强的相关性，表明更快速的进展相比PPMS. ConclusionsMotor-predominantHDLS具有特征性的频繁的额叶释放体征，正常的OCB和IgG指数的结果，严重的CC体萎缩，丰富的深层和皮质下的WMLs在额顶叶，微妙的枕颞叶脑室周围的WMLs，和更多的限制扩散病变的MRI。虽然目前的研究受到HDLS病例数量较少的限制，但我们建议在此类病例中应避免免疫治疗。
BackgroundHereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal-dominant white matter disease, typically characterized by juvenile cognitive decline and frontoparietal white matter lesions. A portion of HDLS patients exhibit preferential motor dysfunctions as their initial symptoms, mimicking multiple sclerosis (MS). However, there is no study comparing this phenotype of HDLS and primary progressive multiple sclerosis (PPMS), which greatly resemble each other. This is the first preliminary study to clarify the clinical and neuroimaging features of motor-predominant HDLS, and compare it with PPMS, using cases whosecolony stimulating factor 1 receptor (CSF1R)were sequenced.MethodsClinical and radiological data from Japanese patients at the Department of Neurology, Kyushu University Hospital, Fukuoka, Japan, were evaluated retrospectively and cross-sectionally. Twenty-nine brain and 18 spinal cord magnetic resonance imaging (MRI) scans from four motor-predominant HDLS patients withCSF1Rmutations and 15 PPMS patients withoutCSF1Rmutations, were evaluated using an HDLS MRI scoring system.ResultsTwo patients with HDLS were initially diagnosed with MS and received immunotherapy. Clinically, motor-predominant HDLS and PPMS patients resembled each other in onset age and disability. However, motor-predominant HDLS patients had a significantly higher frequency of frontal release signs, lower positivity rates of oligoclonal IgG bands (OCB), and lower IgG index values. Total HDLS MRI scores, total white matter lesions (WMLs), and brain atrophy were similar between the diseases. However, motor-predominant HDLS patients had more marked atrophy of the corpus callosum (CC) body, more WMLs in the deep and subcortical regions of the frontoparietal lobes, fewer WMLs in the occipitotemporal periventricular regions, and more restricted diffusivity lesions on MRI than PPMS patients. There was a stronger association between disease duration and CC index in HDLS, suggesting more rapid progression compared with PPMS.ConclusionsMotor-predominant HDLS has characteristic frequent frontal release signs, normal findings for OCB and the IgG index, severe CC body atrophy, abundant deep and subcortical WMLs in the frontoparietal lobes, subtle occipitotemporal lobe periventricular WMLs, and more restricted diffusivity lesions on MRI. Although the present study was limited by the small number of HDLS cases, we propose that immunotherapy should be avoided in such cases.