Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
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DOI：
10.1002/acn3.51947
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发表时间：
2024-01
影响因子：
5.3
通讯作者：
Stephen CD
中科院分区：
文献类型：
--
作者：
Godbole NP;Haxton E;Rowe OE;Locascio JJ;Schmahmann JD;Eichler FS;Ratai EM;Stephen CD
晚发性GM2神经节苷脂沉积症(LOG)亚型晚发性泰-萨氏病(LOTS)和桑德霍夫病(LOSD)是一种极其罕见的神经退行性溶酶体储存障碍，表现为虚弱、共济失调和神经精神症状。以前的研究认为LOTS和LOSD在临床上是无法区分的；最近的研究对此提出了挑战。我们进行了范围评估，以确定影像和临床特征是否可以区分这些疾病。我们检查了截至2022年5月的MEDLINE/非MEDLINE数据库。纳入的文章报告了在遗传学/酶学证实的LOGG中发现的脑成像结果，症状出现在年龄 ≥ 10 年(或至少评估一次≥18 年)，在68篇论文中产生170名LOG患者(LOT = 127，LOSD = 43)。我们比较了LOTS和LOSD，并进行了回归分析。对多次比较的结果进行了修正。LOTS的发病年龄低于LOSD(17.9 ± 8.2vs.23.9 ± 14.4年 ，p = 0.017)，尽管病程相似(p = 0.34)。许多人更常见地出现精神病/躁郁症(35.0%比9.30%，p = 0.011)，但较少出现吞咽问题(4.10%比18.60%，p = 0.041)。Lot(89.0%)与LOSD(60.5%)相比，小脑萎缩更常见，p <； 0.0001，Lot更严重的萎缩(p = 0.0005)。脑干萎缩仅有少量记录(14.2%)。有无吞咽症状(0.036-0.64)和小脑萎缩(5.81[2.10-17.08]，p = 0.0009)是LOTS与LOSD的独立预测因素(优势比[95%可信区间])，包括有精神病/双相情感症状(4.95[1.59-19.52]，p = 0.011)、无吞咽症状(0.16[0.036-0.64]，p = 0.011)。较低的发病年龄(0.96年[0.931.00]，p = 0.075)和震颤(2.50.[0.947.43]，p = 0.078)在统计学上有一定意义，但感觉与纳入模型有关。这些数据表明LOT和LOSD在症状、病程和影像表现上存在显著差异。
Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this. We performed a scoping review to ascertain whether imaging and clinical features may differentiate these diseases. We examined MEDLINE/non‐MEDLINE databases up to May 2022. Articles reporting brain imaging findings in genetically/enzymatically confirmed LOGG, symptom onset at age ≥ 10 years (or evaluated at least once ≥18 years) were included, yielding 170 LOGG patients (LOTS = 127, LOSD = 43) across 68 papers. We compared LOTS versus LOSD and performed regression analyses. Results were corrected for multiple comparisons. Age of onset was lower in LOTS versus LOSD (17.9 ± 8.2 vs. 23.9 ± 14.4 years, p = 0.017), although disease duration was similar (p = 0.34). LOTS more commonly had psychosis/bipolar symptoms (35.0% vs. 9.30%, p = 0.011) but less frequent swallowing problems (4.10% vs. 18.60%, p = 0.041). Cerebellar atrophy was more common in LOTS (89.0%) versus LOSD (60.5%), p < 0.0001, with more severe atrophy in LOTS (p = 0.0005). Brainstem atrophy was documented only in LOTS (14.2%). Independent predictors of LOTS versus LOSD (odds ratio [95% confidence interval]) included the presence of psychosis/bipolar symptoms (4.95 [1.59–19.52], p = 0.011), no swallowing symptoms (0.16 [0.036–0.64], p = 0.011), and cerebellar atrophy (5.81 [2.10–17.08], p = 0.0009). Lower age of onset (0.96 [0.93–1.00], p = 0.075) and tremor (2.50 [0.94–7.43], p = 0.078) were marginally statistically significant but felt relevant to include in the model. These data suggest significant differences in symptomatology, disease course, and imaging findings between LOTS and LOSD.
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影响因子：
7.7
作者：
Miller, Jeremy A.;Guillozet-Bongaarts, Angela;Lein, Ed
通讯作者：
Lein, Ed
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通讯作者：
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