FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations
FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations
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DOI：
10.1038/s41398-019-0381-1
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发表时间：
2019-01-31
影响因子：
6.8
通讯作者：
Grimmer, Timo
中科院分区：
文献类型：
--
作者：
Diehl-Schmid, Janine;Licata, Abigail;Grimmer, Timo
C9ORF72 突变是家族性额颞叶变性 (FTLD) 和肌萎缩侧索硬化症 (ALS) 的最常见原因。 MRI 研究调查了 C9ORF72 相关 FTLD (C9FTLD) 的结构变化，并提供了有关丘脑和小脑显着受累的初步见解。我们对 22 名 FTLD 突变携带者、22 名匹配的 FTLD 非携带者和 23 名认知健康对照者进行的多中心 F-18-氟脱氧葡萄糖正电子发射断层扫描研究，为 C9FTLD 的功能变化提供了有价值的见解：与非携带者相比，突变携带者的两个丘脑的葡萄糖代谢显着降低，强调了丘脑在 C9FTLD 中的关键作用。丘脑代谢与疾病严重程度、疾病持续时间或精神病症状的存在无关。与我们的预期相反，我们无法证明携带者或非携带者的小脑代谢低下。未来需要对大型患者群体进行影像学和神经病理学研究，以进一步阐明丘脑在 C9FTLD 中的核心作用。
C9ORF72 mutations are the most common cause of familial frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). MRI studies have investigated structural changes in C9ORF72-associated FTLD (C9FTLD) and provided first insights about a prominent involvement of the thalamus and the cerebellum. Our multicenter, F-18-fluorodeoxyglucose positron-emission tomography study of 22 mutation carriers with FTLD, 22 matched non-carriers with FTLD, and 23 cognitively healthy controls provided valuable insights into functional changes in C9FTLD: compared to non-carriers, mutation carriers showed a significant reduction of glucose metabolism in both thalami, underscoring the key role of the thalamus in C9FTLD. Thalamic metabolism did not correlate with disease severity, duration of disease, or the presence of psychotic symptoms. Against our expectations we could not demonstrate a cerebellar hypometabolism in carriers or non-carriers. Future imaging and neuropathological studies in large patient cohorts are required to further elucidate the central role of the thalamus in C9FTLD.