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CSF1R (Colony Stimulating Factor 1 Receptor) is a Protein Coding gene. Diseases associated with CSF1R include Leukoencephalopathy, Hereditary Diffuse, With Spheroids and Pigmented Villonodular Synovitis. Among its related pathways are GPCR Pathway and Nanog in Mammalian ESC Pluripotency. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is KIT.

Dementia associated with brain calcification may occur in Down syndrome and some cases of Fahr’s disease (bilateral striatopallidodentate calcinosis). Basal ganglia calcification may occur in Nasu–Hakola disease resulting from TREM2 mutations, and punctate calcification of subcortical and deep white matter may occur in adult-onset leukodystrophy with axonal spheroids and pigmented glia resulting from CSF1R mutations. Brain calcification in hypoparathyroidism or pseudohypoparathyroidism may occasionally be associated with cognitive impairment. All these diagnostic possibilities were excluded by the clinical and investigation findings.

Chance concurrence of two separate disorders (dual pathology), FTD and idiopathic brain calcification, might explain this case. However, a plausible unifying diagnosis for this phenotype is Kosaka–Shibayama disease, or diffuse neurofibrillary tangles with calcification (DNTC). This rare disorder of unknown aetiology is reported almost exclusively from Japan 1).


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Ukai K, Kosaka K. Diffuse neurofibrillary tangles with calcification (Kosaka-Shibayama disease) in Japan. Psychiatry Clin Neurosci 2016; 70: 131–40.
csf1r.txt · Last modified: 2019/08/13 11:43 by administrador