Teaching case 1-2020 - ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation - An unusual cause of dementia.

Sir, – In the issue “Vol. 39 – No. 1/2020” of Clinical Neuropathology, we described the neuropathological features in a male patient in his fifties with an early-onset dementia. We entitled the article “Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia – An unusual cause of dementia [1]”.

At the time of the publication, genetic testing was not available. Fortunately, we have now been able to analyze an archival blood sample and to perform whole exome sequencing (Institute of Human Genetics, Technical University Munich, Germany). A novel heterozygous missense variant c.2546T>C, p. (Phe849Ile) in the CSF1R (colony stimulating factor-1 receptor, NM_005211.3) gene was detected. This variant is considered as “likely pathogenic” according to the American College of Medical Genetics and Genomics (ACMG) criteria [2].

Our genetic findings can confirm that the described case was a “definite” case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation [3].

Funding

No specific funding for this work.

Conflict of interest

The authors declare no conflict of interest.