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

I thank Dr. Lynch and Prof. Houlden for the important comment on our Mystery Case.1 Indeed, calcifications and cysts found in patients with SNORD118 mutations, formerly described in Labrune syndrome, are larger than those seen in patients harboring CSF-1R mutations. Nevertheless, the importance of calcifications in this disorder was recently emphasized.2 Notably, calcifications are small and may have a particular stepping-stone appearance in the frontal pericallosal regions.2

Source: Neurology - May 15, 2017 Category: Neurology Authors: Ayrignac, X. Tags: WRITECLICK & amp;reg; EDITOR ' S CHOICE Source Type: research