The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China.
Jingying WuXin ChengDuxin JiHuiwen NiuSongquan YaoXukun LvJianqiang WangZiyi LiHaoran ZhengYuwen CaoFeixia ZhanMengyuan ZhangWotu TianXiaojun HuangXinghua LuanZhaoxia WangPublished in: Movement disorders : official journal of the Movement Disorder Society (2024)
The core manifestations of Chinese CRD patients are progressive cognitive decline, parkinsonism, and bilateral asymmetric white matter changes. Compared to men, women have more severe cognitive impairment and imaging changes. c.2381 T > C/p.I794T is a hotspot mutation in Chinese patients. © 2024 International Parkinson and Movement Disorder Society.
Keyphrases
- cognitive decline
- white matter
- cognitive impairment
- end stage renal disease
- mild cognitive impairment
- multiple sclerosis
- newly diagnosed
- ejection fraction
- high resolution
- peritoneal dialysis
- drug induced
- parkinson disease
- early onset
- type diabetes
- pregnant women
- patient reported outcomes
- middle aged
- mass spectrometry
- fluorescence imaging
- cerebrospinal fluid
- breast cancer risk