Abstract
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.
ABBREVIATIONS:
- ALSP
- adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- FTLD
- frontotemporal lobar degeneration
- WMH
- white matter hyperintensities
Footnotes
Serge Lumbroso and Pierre Labauge contributed equally as last authors.
Disclosures: Fanny Mochel—UNRELATED: Consultancy: Ultragenyx Pharmaceuticals, Comments: expert at investigator meetings for Phase 3 study; Expert Testimony: Haute Autorité de Santé, Comments: expert opinion on an Orphan drug for a rare neurometabolic disease; Grants/Grants Pending: Programme Hospitalier de Recherche Clinique, Direction Générale de l'Offre de Soins, Ultragenyx, Comments: clinical trial: NCT02336633, clinical trial: NCT02639871, clinical trial: NCT02453061*; Patents (Planned, Pending or Issued): EP1929995 A1. Serge Belliard—UNRELATED: Board Membership: Lilly, Comments: board for development of antiamyloid treatments. Cecilia Marelli—UNRELATED: Payment for Development of Educational Presentations: Actelion Pharmaceuticals; Travel/Accommodations/Meeting Expenses Unrelated to Activities Listed: Nutricia Metabolics. Yann Nadjar—UNRELATED: Grants/Grants Pending: Leadiant and Retrophin, Comments: financial support for clinical studies about cerebrotendinous xanthomatosis from 2 pharmaceutical companies*; Payment for Lectures Including Service on Speakers Bureaus: lectures about Fabry disease (from Amicus Therapeutics) and dementias from inherited metabolic disease (from Orphan Europe); Payment for Manuscript Preparation: from Orphan Europe, concerning a manuscript about MTHFR deficiency*; Patents (Planned, Pending or Issued): from Orphan Europe, to develop a Web site concerning neurometabolic diseases. *Money paid to the institution.
The research leading to these results has received funding from the program “Investissements d'avenir” ANR-10-IAIHU-06. This work was funded by the PHRC (Programme Hospitalier de Recherche Clinique) FTLD exome (promotion Assistance Publique–Hôpitaux de Paris to I.L.B.).
- © 2018 by American Journal of Neuroradiology
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