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Article

Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

Internal medicine (Tokyo, Japan) - 1 Jan 2013

Kondo Yasufumi, Kinoshita Michiaki, Fukushima Kazuhiro, Yoshida Kunihiro, Ikeda Shu-ichi

Abstract excerpt

We herein report the case of a 41-year-old Japanese man with hereditary diffuse leukoencephalopathy with spheroids (HDLS) who carried the de novo K793T mutation in the colony-stimulating factor 1 receptor gene (CSF1R). He showed a gradual decline of his cognitive and mental functions over the following six months. On brain MRI, a thin corpus callosum with T2- and FLAIR-high signal intensity in the splenium was...

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Identifiers

PMID: 23411710
DOI: 10.2169/internalmedicine.52.8879

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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