Letter re: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy

Ayrignac et al.1 presented an interesting case that highlighted the importance of CSF-1R in adult-onset leukoencephalopathies. However, we are concerned that the discussion by Dr. Ganesh in the Mystery Case Responses section confused 2 different diseases as the same.1 This case clearly described a typical presentation of CSF-1R-related disease with apparent autosomal dominant inheritance. However, Dr. Ganesh described this as a case of Labrune syndrome (leukoencephalopathy with calcifications and cysts), an autosomal recessive disorder caused by mutations in SNORD118.2 While calcifications occur in both syndromes, they are far more widespread and severe in Labrune syndrome and the imaging appearance of both conditions is distinctive. Dr. Ganesh incorrectly attributed 11% of adult-onset leukoencephalopathy to Labrune syndrome by referencing Guerreiro et al.,3 who clearly referred to CSF-1R-related disease.

Source: Neurology - May 15, 2017 Category: Neurology Authors: Lynch, D. S., Houlden, H. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research