Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene.
Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene.
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DOI：
10.1080/13554794.2020.1817493
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发表时间：
2020-10
期刊：
影响因子：
0.8
通讯作者：
Rexach JE
中科院分区：
文献类型：
--
作者：
Ringman JM;Qiao Y;Garbin A;Fisher BE;Fogel B;Watari Knoell K;Chui HC;Shi Y;Rexach JE
我们报告一个病例，患者在39岁时开始出现严重的自闭症样缺陷，包括情感联系、执行功能障碍和共济失调。他被发现在SPG7基因中具有复合杂合变体（A510V和1552+1 G>T置换），其突变与痉挛性轻瘫经典相关。磁共振成像显示小脑萎缩，使用人类连接组协议的扩散成像显示异常仅限于上级小脑脚的小脑红核和小脑丘脑束，以及前庭小脑束和小脑下脚中连接延髓和小脑的束。经颅磁刺激揭示了一个长期的皮质沉默期代表夸大的皮质抑制，如先前所描述的纯小脑变性。我们的研究结果获得性小脑认知情感综合征与特定的解剖和神经生理异常的通路传入和传出小脑扩大频谱SPG7相关的神经变性和支持小脑输出的社会情感行为的作用。
We report a case of a patient with the onset of severe autism-like deficits in emotional connectedness, executive dysfunction, and ataxia beginning at age 39. He was found to have compound heterozygous variants in the SPG7 gene (A510V and 1552+1 G>T substitutions), mutation of which is classically associated with spastic paraparesis. Magnetic resonance imaging revealed cerebellar atrophy, and diffusion imaging using the Human Connectome Protocol demonstrated abnormalities confined to the cerebellorubral and cerebellothalamic tracts of the superior cerebellar peduncle and the vestibulocerebellar tract and tracts connecting the medulla oblongata and cerebellum in the inferior cerebellar peduncle. Transcranial magnetic stimulation revealed a prolonged cortical silent period representing exaggerated cortical inhibition, as has been previously described with pure cerebellar degeneration. Our findings of the acquired cerebellar cognitive affective syndrome in association with specific anatomic and neurophysiological abnormalities in pathways afferent to and efferent from the cerebellum expand the spectrum of SPG7-related neurodegeneration and support a role for cerebellar output in socio-emotional behavior.
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影响因子：
5.7
作者：
Sotiropoulos, Stamatios N.;Jbabdi, Saad;Xu, Junqian;Andersson, Jesper L.;Moeller, Steen;Auerbach, Edward J.;Glasser, Matthew F.;Hernandez, Moises;Sapiro, Guillermo;Jenkinson, Mark;Feinberg, David A.;Yacoub, Essa;Lenglet, Christophe;Van Essen, David C.;Ugurbil, Kamil;Behrens, Timothy E. J.
通讯作者：
Behrens, Timothy E. J.
影响因子：
14.5
作者：
Schmahmann, JD;Sherman, JC
通讯作者：
Sherman, JC
影响因子：
2.9
作者：
Kuo, Yi-Ling;Dubuc, Tobin;Fisher, Beth E.
通讯作者：
Fisher, Beth E.
影响因子：
8.6
作者：
Teo, James T. H.;Schneider, Susanne A.;Bhatia, Kailash P.
通讯作者：
Bhatia, Kailash P.
影响因子：
14.5
作者：
van Gassen, Koen L. I.;van der Heijden, Charlotte D. C. C.;van de Warrenburg, Bart P.
通讯作者：
van de Warrenburg, Bart P.