Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases.

Autor:	Codjia P; From the Department of Neurology (P.C., X.A., C.C.-D., C.M., P.L.), Montpellier University Hospital, Montpellier, France., Ayrignac X; From the Department of Neurology (P.C., X.A., C.C.-D., C.M., P.L.), Montpellier University Hospital, Montpellier, France xavier.ayrignac@yahoo.fr., Mochel F; Genetics (F.M.), Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France., Mouzat K; Departments of Biochemistry and Molecular Biology (K.M., S.L.)., Carra-Dalliere C; From the Department of Neurology (P.C., X.A., C.C.-D., C.M., P.L.), Montpellier University Hospital, Montpellier, France., Castelnovo G; Neurology (G.C.), Nîmes University Hospital, Nîmes, France., Ellie E; Department of Neurology (E.E.), Côte Basque Hospital, Bayonne, France., Etcharry-Bouyx F; Department of Neurology (F.E.-B., C.V.), Angers University Hospital, Angers, France., Verny C; Department of Neurology (F.E.-B., C.V.), Angers University Hospital, Angers, France., Belliard S; Department of Neurology (S.B.), Rennes University Hospital, Rennes, France., Hannequin D; Department of Neurology (D.H.), Rouen University Hospital, Rouen, France., Marelli C; From the Department of Neurology (P.C., X.A., C.C.-D., C.M., P.L.), Montpellier University Hospital, Montpellier, France., Nadjar Y; Departments of Neurology (Y.N., I.L.B.)., Le Ber I; Departments of Neurology (Y.N., I.L.B.)., Dorboz I; Department of Neuropediatrics and Metabolic Disorders (I.D., S.S., O.B.-T.), Assistance Publique-Hôpitaux de Paris, Robert Debré University Hospital, Paris, France., Samaan S; Department of Neuropediatrics and Metabolic Disorders (I.D., S.S., O.B.-T.), Assistance Publique-Hôpitaux de Paris, Robert Debré University Hospital, Paris, France., Boespflug-Tanguy O; Department of Neuropediatrics and Metabolic Disorders (I.D., S.S., O.B.-T.), Assistance Publique-Hôpitaux de Paris, Robert Debré University Hospital, Paris, France., Lumbroso S; Departments of Biochemistry and Molecular Biology (K.M., S.L.)., Labauge P; From the Department of Neurology (P.C., X.A., C.C.-D., C.M., P.L.), Montpellier University Hospital, Montpellier, France.
Jazyk:	angličtina
Zdroj:	AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2018 Sep; Vol. 39 (9), pp. 1657-1661. Date of Electronic Publication: 2018 Aug 16.
DOI:	10.3174/ajnr.A5744
Abstrakt:	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. (© 2018 by American Journal of Neuroradiology.)
Databáze:	MEDLINE
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