Moyamoya Disease Associated with a Deficiency of Complement Component 6

Complement component 6 (C6) deficiency is a very rare genetic defect that leads to significantly diminished synthesis, secretion, or function of C6. In the current report, we demonstrate a previously undescribed, homozygous missense mutation in exon 17 of the C6 gene (c.2545A>G p.Arg849Gly) in a 35-year-old Japanese woman with moyamoya disease and extremely low levels of CH50 (

Source: Journal of Stroke and Cerebrovascular Diseases - June 16, 2022 Category: Neurology Authors: Masaru Kato, Yuki Kudo, Masanao Hatase, Naohisa Tsuchida, Shuhei Takeyama, Taku Sugiyama, Miki Fujimura, Ichiro Yabe, Hiroshi Tsujimoto, Yasuo Fukumori, Norimitsu Inoue, Tatsuya Atsumi Source Type: research