文摘
摘要目的:描述ALSP的放射学特征及其发展援助和准确诊断和通知ALSP治疗干预研究的设计。
背景:ALSP是一种罕见的,迅速进步致命的神经障碍通常占主导地位的变异造成的CSF1R基因。大脑白质脱髓鞘,轴突和色素胶质细胞肿胀是这种疾病的病理特点。ALSP特点是一个星座的症状包括人格改变、认知功能障碍和运动障碍,可以模仿一些神经退行性疾病,因此往往难以诊断。治疗方案为ALSP是有限的。此外,有限的自然历史数据可用于通知新疗法的临床试验设计。
设计/方法:这是一个回顾,多中心,自然历史研究的患者诊断为ALSP。数据包括人口、医疗/临床病史、诊断结果,干预/药物和MRI通过回顾性研究EHR /鉴定病人的医疗记录。MRI严重程度评分(Sundal等。2012),白质病变和区域的脑容量可用MRI检查。
结果:综述了62名患者的记录。脑部核磁共振成像用于19病人。其中19个病人,16的文档CSF1R基因突变,10是女性,平均年龄在诊断为48.7±12.9岁和9纵MRI检查。大脑核磁共振的发现包括白质病变(100%)和额颞分布、胼胝体变薄(79%)、脑萎缩(84%)和心室扩大(37%)。MRI严重度评分平均为14.3±6.5(范围:3-25)。进展在MRI严重程度得分,白质病变体积和地区脑容量损失在大多数患者纵向观察MRI扫描。
结论:微分MRI ALSP模式的识别可以提高诊断评估。定性和定量措施MRI疾病严重程度展示潜在的敏感ALSP在治疗干预措施的研究结果。
披露:Rajagovindan博士已经收到生原体的个人作为一个雇员补偿。Rajagovindan博士已经收到了守夜的个人作为一个雇员补偿。Rajagovindan博士在生原体有股票。博士Rajagovindan守夜的股票。O ' mara已收到先生的个人作为一个雇员补偿守夜的神经科学,LLC。安德烈亚斯Meier已收到个人赔偿作为一个员工的“航行者”疗法。安德烈亚斯•迈耶已收到生原体的个人作为一个雇员补偿。MacDougall先生已经收到个人薪酬在50000 - 99999美元的范围作为锕制药的顾问。MacDougall先生已经收到个人薪酬在100000 - 499999美元的范围为生物科学光环担任顾问。MacDougall先生已经收到个人薪酬在10000 - 49999美元的范围作为顾问守夜神经。MacDougall先生已经收到个人薪酬在10000 - 49999美元的范围为缓解期药品担任顾问。 Mr. MacDougall has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Edgewise Therapeutics. Mr. MacDougall has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Enterin . Mr. MacDougall has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Neurogastrx, Inc.. Mr. MacDougall has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Promentis. Mr. MacDougall has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Synlogic Therapeutics. Mr. MacDougall has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Cogent Biosciences. Mr. MacDougall has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Point Biopharma. Mr. MacDougall has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ultragenyx. Dr. Finger has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vigil Neuro. Dr. Finger has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Denali Therapeutics. The institution of Dr. Finger has received research support from CIHR. The institution of Dr. Finger has received research support from Physician Servcices Incorporated. The institution of Dr. Finger has received research support from Weston Foundation. Dr. Finger has received personal compensation in the range of $500-$4,999 for serving as a Annual Meeting Course Director with American Academy of Neurology. Dr. Orthmann Murphy has received research support from Conrad N. Hilton Foundation. Dr. Orthmann Murphy has received research support from Institute for Translational Medicine and Therapeutics’ (ITMAT) Transdisciplinary Program in Translational Medicine and Therapeutics, University of Pennsylvania. The institution of Dr. Orthmann Murphy has received research support from Vigil Neurosciences. The institution of Dr. Orthmann Murphy has received research support from National MS Society. Dr. Orthmann Murphy has received personal compensation in the range of $500-$4,999 for serving as a Invited Speaker with Temple University . Dr. Orthmann Murphy has received personal compensation in the range of $0-$499 for serving as a Consultant with American Neurological Association. Daniel Broderick has nothing to disclose. Dr. Wszolek has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Polish Neurological Society/Via Medica. Spyros Papapetropoulos has nothing to disclose.
