Synaptophysin, already related to X-linked intellectual disability, is expressed mainly in the central nervous system. Studies in humans indicate that the downregulation of synaptophysin could be involved in the development of dementia. Our study presents the first familial case of behavioral variant frontotemporal dementia associated with the co-occurrence of the repeat expansion in C9orf72 and a pathogenic variant in the SYP gene.

中文翻译：

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一个家族中缓慢进展的行为性额颞叶痴呆综合征，C9orf72 扩增和突触素突变共同分离

已经与 X 连锁智力障碍有关的突触素主要在中枢神经系统中表达。对人类的研究表明，突触素的下调可能与痴呆症的发展有关。我们的研究提出了首例与C9orf72重复扩增和SYP基因致病性变异同时发生相关的行为变异额颞叶痴呆家族病例。