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
- ejection fraction
- multiple sclerosis
- chronic kidney disease
- newly diagnosed
- high resolution
- polycystic ovary syndrome
- pregnant women
- metabolic syndrome
- patient reported outcomes
- case report
- insulin resistance
- skeletal muscle
- photodynamic therapy
- cerebrospinal fluid