Abstract：
:We report a new family with autosomal dominant inheritance of a late onset rapidly progressive leukodystrophy in which exome sequencing has revealed a novel mutation p.R782G in the Colony-Stimulating Factor 1 Receptor gene (CSF1R). Neuropathology of two affected family members showed cerebral white matter degeneration with axonal swellings and pigmented macrophages. The few recently reported families with CSF1R mutations had been previously labelled "hereditary diffuse leukencephalopathy with axonal spheroids" (HDLS) and "pigmentary orthochromatic leukodystrophy" (POLD), disorders which now appear to form a disease continuum. The term "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" (ALSP) has been proposed to encompass this spectrum. As CSF1R regulates microglia this mutation implies that dysregulation of microglia is the primary cause of the disease.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Foulds N,Pengelly RJ,Hammans SR,Nicoll JA,Ellison DW,Ditchfield A,Beck S,Ennis Sdoi
10.1038/srep10042subject
Has Abstractpub_date
2015-05-15 00:00:00pages
10042issn
2045-2322pii
srep10042journal_volume
5pub_type
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