Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.
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DOI：
10.1016/j.ymgme.2021.06.008
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发表时间：
2021-08
影响因子：
3.8
通讯作者：
Ratai EM
中科院分区：
文献类型：
--
作者：
Rowe OE;Rangaprakash D;Weerasekera A;Godbole N;Haxton E;James PF;Stephen CD;Barry RL;Eichler FS;Ratai EM
我们的研究旨在量化迟发性GM2神经节苷脂沉积症(Logg)患者小脑、丘脑和顶叶皮质代谢异常的结构变化，该疾病包括晚发性Tay-Sachs病(LOTS)和Sandhoff病(LOSD)。我们招募了10名LOG患者(7批，3名LOSD)，他们接受了神经学评估组合，并与7名年龄匹配的对照组进行了比较。在3T扫描仪上进行结构MRI和MRS检查。结构体积由自由潜水获得，并以总的颅内体积归一化。定量代谢产物包括N-乙酰天冬氨酸(NAA)、胆碱(Cho)、肌醇(Mi)、肌酸(Cr)和谷氨酸谷氨酰胺结合蛋白(GLX)。代谢浓度根据部分体积效应进行了校正。结构分析显示，Logg队列中有显著的小脑萎缩，这主要是由许多患者引起的。Logg组NAA较低，mI较高，但这也是由Lot患者显著推动的。临床共济失调缺陷(通过共济失调评估和评级量表)与神经元损伤(通过NAA)、神经炎症(通过MI)和小脑体积萎缩相关。小脑中NAA的减少表明，除了小脑萎缩外，还有持续的神经元功能受损和/或丢失，而MI的增加表明Logg可能存在神经炎症(在LOTS亚型中更是如此)。量化小脑萎缩与LOGG中神经代谢差异的关系可能会导致在评估疾病严重程度、进展和药物疗效方面的改进。最后，未来LOGG的神经成像研究需要更准确地对比LOT和LOSD。
Our study aimed to quantify structural changes in relation to metabolic abnormalities in the cerebellum, thalamus, and parietal cortex of patients with late-onset GM2-Gangliosidosis (LOGG), which encompasses late-onset Tay-Sachs disease (LOTS) and Sandhoff disease (LOSD). We enrolled 10 patients with LOGG (7 LOTS, 3 LOSD) who underwent a neurological assessment battery and 7 age-matched controls. Structural MRI and MRS were performed on a 3T scanner. Structural volumes were obtained from FreeSurfer and normalized by total intracranial volume. Quantified metabolites included N-acetylaspartate (NAA), choline (Cho), myo-inositol (mI), creatine (Cr) and combined glutamate-glutamine (Glx). Metabolic concentrations were corrected for partial volume effects. Structural analyses revealed significant cerebellar atrophy in the LOGG cohort, which was primarily driven by LOTS patients. NAA was lower and mI higher in LOGG, but this was also significantly driven by the LOTS patients. Clinical ataxia deficits (via the Scale for the Assessment and Rating of Ataxia) were associated with neuronal injury (via NAA), neuroinflammation (via mI), and volumetric atrophy in the cerebellum. The decrease in NAA in the cerebellum suggests that, in addition to cerebellar atrophy, there is ongoing impaired neuronal function and/or loss, while an increase in mI indicates possible neuroinflammation in LOGG (more so within the LOTS subvariant). Quantifying cerebellar atrophy in relation to neurometabolic differences in LOGG may lead to improvements in assessing disease severity, progression, and pharmacological efficacy. Lastly, future neuroimaging studies in LOGG are required to contrast LOTS and LOSD more accurately.
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Kalra, Sanjay;Hanstock, Christopher C.;Johnston, Wendy S.
通讯作者：
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