Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations.
Pei-Chien TsaiJong-Ling FuhChih-Chao YangAnna ChangLi-Ming LienPei-Ning WangKuan-Lin LaiYu-Shuen TsaiYi-Chung LeeYi-Chu LiaoPublished in: Annals of clinical and translational neurology (2021)
CSF1R mutations account for 3.5% (5/149) of the adult-onset leukoencephalopathy in Taiwan. CSF1R mutations outside the tyrosine kinase domain may also disturb the CSF1R function and lead to the clinical phenotype. Molecular functional validation is important to determine the pathogenicity of novel CSF1R variants.