Unique Lewy pathology in myotonic dystrophy type 1
Unique Lewy pathology in myotonic dystrophy type 1
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DOI：
10.1111/neup.12790
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发表时间：
2022-02-23
期刊：
影响因子：
2.3
通讯作者：
Saito, Yuko
中科院分区：
文献类型：
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作者：
Sano, Terunori;Kawazoe, Tomoya;Saito, Yuko
路易体相关α-突触核蛋白病（路易病理学）已在强直性肌营养不良（DM）1型（DM 1）患者中报告，但没有详细的报告描述其发生的患病率和程度。我们研究了国家神经病学和精神病学中心（NCNP）脑库中连续完整的DM 1尸检病例，以治疗难治性精神和神经系统疾病。将从NCNP脑库获得的32例遗传学确定为DM 1（59.0 +/- 8.7岁）的病例与从日本老龄化研究脑库（BBAR）获得的对照病例进行比较。研究的解剖部位遵循路易体痴呆共识指南，除了嗅觉上皮和脊髓外，还扩展到外周自主神经系统、颞极和枕叶皮质。在32例患者中，11例（34.4%）有Lewy病理，其患病率显著高于来自BBAR的对照病例（20.1%）。在DM 1中检测到的路易病理学很普遍，但在任何DM 1病例中均未观察到黑质肉眼可见的色素脱失;这与黑质和杏仁核中路易病理学的显微镜检查缺乏相当。DM 1的路易病理学似乎不遵循Braak的上升范式或嗅觉杏仁核延伸。DM 1的路易神经突和点在大脑皮层中非常稀疏，与BBAR对照病例中观察到的不同。这项研究首次证明了DM 1中独特的Lewy病理学，可能有助于理解Lewy病理学的蛋白质繁殖假说。
Lewy body-related alpha-synucleinopathy (Lewy pathology) has been reported in patients with myotonic dystrophy (DM) type 1 (DM1), but no detailed report has described the prevalence and extent of its occurrence. We studied consecutive full autopsy cases of DM1 at the National Center of Neurology and Psychiatry (NCNP) Brain Bank for intractable psychiatric and neurological disorders. Thirty-two cases, genetically determined to be DM1 (59.0 +/- 8.7 years), obtained from the NCNP Brain Bank, were compared with control cases obtained from the Brain Bank for Aging Research (BBAR) in Japan. The investigated anatomical sites followed the Dementia with Lewy Bodies Consensus Guideline, expanding to the peripheral autonomic nervous system, temporal pole, and occipital cortex, in addition to the olfactory epithelium and spinal cord. Of the 32 patients, 11 (34.4%) had Lewy pathology, with a significantly higher prevalence than that in the control cases from the BBAR (20.1%). Lewy pathology detected in DM1 was widespread, but no macroscopic depigmentation of the substantia nigra was observed in any DM1 case; this was commensurate with the microscopic paucity of Lewy pathology in the substantia nigra and amygdala. Lewy pathology in DM1 does not appear to follow either Braak's ascending paradigm or the olfactory-amygdala extension. Lewy neurites and dots in DM1 were very sparse in the cerebral cortex and distinct from those observed in BBAR control cases. This study was the first demonstration of unique Lewy pathology in DM1 and may contribute to the understanding of the protein propagation hypothesis of Lewy pathology.