RT Journal Article SR Electronic T1 Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases JF American Journal of Neuroradiology JO Am. J. Neuroradiol. FD American Society of Neuroradiology SP 1657 OP 1661 DO 10.3174/ajnr.A5744 VO 39 IS 9 A1 P. Codjia A1 X. Ayrignac A1 F. Mochel A1 K. Mouzat A1 C. Carra-Dalliere A1 G. Castelnovo A1 E. Ellie A1 F. Etcharry-Bouyx A1 C. Verny A1 S. Belliard A1 D. Hannequin A1 C. Marelli A1 Y. Nadjar A1 I. Le Ber A1 I. Dorboz A1 S. Samaan A1 O. Boespflug-Tanguy A1 S. Lumbroso A1 P. Labauge YR 2018 UL http://www.ajnr.org/content/39/9/1657.abstract AB SUMMARY: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is an autosomal dominant leukoencephalopathy related to CSF1R gene mutations. A growing number of clinicoradiologic phenotypes have been described. In this study, we analyzed brain imaging findings in 16 patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia to refine radiologic diagnostic clues. T2/FLAIR white matter hyperintensities were present in all patients with frontal or frontoparietal predilection, with asymmetric distribution in more than one-third. Brain atrophy and callosal involvement were almost constant, and corticospinal tract involvement was frequent. Moreover, deep white matter hyperintense dots on DWI and deep punctate calcifications on CT were often found. Conversely, deep gray matter nuclei, external capsules, and brain stem were rarely involved. Our series emphasized the great variability of MR imaging findings seen in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. A complete imaging screening including DWI, T2*, and CT is mandatory to accurately assess patients with suspected inherited adult-onset leukoencephalopathy.ALSPadult-onset leukoencephalopathy with axonal spheroids and pigmented gliaFTLDfrontotemporal lobar degenerationWMHwhite matter hyperintensities