Objective: To clarify the genetic, clinicopathologic, and neuroimaging characteristics of
patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) with the colony
stimulating factor 1 receptor (CSF-1R) mutation. Methods: We performed molecular genetic
analysis of CSF-1R in patients with HDLS. Detailed clinical and neuroimaging findings were
retrospectively investigated. Five patients were examined neuropathologically. Results: We
found 6 different CSF-1R mutations in 7 index patients from unrelated Japanese families …

CiNii 博士論文 - Haploinsufficiency of CSF-1R and clinicopathologic characterization in
patients with HDLS … Haploinsufficiency of CSF-1R and clinicopathologic characterization
in patients with HDLS CSF-1Rのハプロ不全とHDLS患者の臨床病理学的解析 … CSF-1Rの
ハプロ不全とHDLS患者の臨床病理学的解析 …