A Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification.
Xinhui ChenYihua ShiFeng FuLebo WangHongying YuDehao YangXinchen WangChenxin YingHaoyu WangZhiru LinHaotian WangFan ZhangXiaosheng ZhengYuru GuoYaoting WangYiHeng ZengMiao ZhaoYiling ChenJiaxiang LiHaibin XiaJiawen ChenBo WangSheng WuFei XieJianhua FengZhidong CenWei LuoPublished in: Movement disorders : official journal of the Movement Disorder Society (2024)
Our study replicated the identification of NAA60 as a novel causative gene for autosomal recessive PFBC, demonstrating our causative variant leads to NAA60 loss of function. The NAA60 loss of function disrupts not only PFBC-related proteins (eg, PiT2 and XPR1) but also a wide range of other brain calcification-associated membrane protein substrates (eg, RFC), and provided a novel probable pathogenic mechanism for PFBC. © 2024 International Parkinson and Movement Disorder Society.