Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis.
Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis.
复制标题
DOI：
10.14802/jmd.18020
复制
发表时间：
2018-09
影响因子：
3.9
通讯作者：
Sobue G
中科院分区：
文献类型：
--
作者：
Watanabe H;Riku Y;Hara K;Kawabata K;Nakamura T;Ito M;Hirayama M;Yoshida M;Katsuno M;Sobue G
多系统萎缩(MSA)是一种成人起病的进行性神经退行性疾病。MSA患者在病程中表现出不同的表型，包括帕金森综合症、小脑性共济失调、自主神经衰竭和锥体体征。MSA患者有时会出现孤立的自主神经衰竭或运动症状/体征。从发病到伴随出现运动和自主神经症状的平均持续时间约为2年，但最长可达14年。由于运动和自主神经症状的存在对于目前的诊断标准是必不可少的，当患者存在孤立的自主神经衰竭或运动症状/体征时，早期诊断是困难的。相比之下，MSA患者可能会表现出严重的自主神经衰竭，并在出现运动症状/体征之前死亡，目前诊断MSA需要运动症状/体征。最近的研究还显示，MSA患者可能表现出MSA的非支持性特征，如痴呆症、幻觉和垂直凝视麻痹。为了建立早期诊断标准和临床上明确的分类，为成功开发针对MSA的疾病修正疗法或症状干预措施，研究应侧重于孤立的阶段和非典型症状，以开发满足客观性、半定量测量和简单的全球可用要求的特定的临床、影像和流体生物标志物。一些新的技术，如将大脑自动划分为多个脑区以量化个体的灰质和白质体积，以及可视化α-突触核蛋白和其他候选的血清和脑脊液生物标记物，可能有望用于临床明确的早期诊断。
Multiple system atrophy (MSA) is an adult-onset, progressive neurodegenerative disorder. Patients with MSA show various phenotypes during the course of their illness, including parkinsonism, cerebellar ataxia, autonomic failure, and pyramidal signs. Patients with MSA sometimes present with isolated autonomic failure or motor symptoms/ signs. The median duration from onset to the concomitant appearance of motor and autonomic symptoms is approximately 2 years but can range up to 14 years. As the presence of both motor and autonomic symptoms is essential for the current diagnostic criteria, early diagnosis is difficult when patients present with isolated autonomic failure or motor symptoms/signs. In contrast, patients with MSA may show severe autonomic failure and die before the presentation of motor symptoms/signs, which are currently required for the diagnosis of MSA. Recent studies have also revealed that patients with MSA may show nonsupporting features of MSA such as dementia, hallucinations, and vertical gaze palsy. To establish early diagnostic criteria and clinically definitive categorization for the successful development of disease-modifying therapy or symptomatic interventions for MSA, research should focus on the isolated phase and atypical symptoms to develop specific clinical, imaging, and fluid biomarkers that satisfy the requirements for objectivity, for semi- or quantitative measurements, and for uncomplicated, worldwide availability. Several novel techniques, such as automated compartmentalization of the brain into multiple parcels for the quantification of gray and white matter volumes on an individual basis and the visualization of α-synuclein and other candidate serum and cerebrospinal fluid biomarkers, may be promising for the early and clinically definitive diagnosis of MSA.