CSF1R ALSP

This website provides information on patients with mutations in the CSF1Rgene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CSF1Rgene is a multisystem disorder characterized by progressive neurological deterioration, white matter abnormalities, and widespread microglial dysfunction.

Not all individuals with a mutation in the CSF1Rgene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CSF1Rgene.

Long Guo, MD, PhD, Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, China, longguo601@gmail.com
Jinhui Zhu, Xi’an Jiaotong University, Xi'an, Shaanxi, China, aydzjh@163.com