Article
Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.
European journal of neurology - 1 Jan 2022
Ayrignac Xavier, Carra-Dallière Clarisse, Codjia Pekes, Mouzat Kevin, Castelnovo Giovanni, Ellie Emmanuel, Etcharry-Bouyx Frédérique, Belliard Serge, Marelli Cecilia, Portet Florence, Le Ber Isabelle, Durand-Dubief Francoise, Mathey Guillaume, Stankoff Bruno, Dorboz Imen, Drunat Severine, Boespflug-Tanguy Odile, Menjot de Champfleur Nicolas, Lumbroso Serge, Mochel Fanny, Labauge Pierre
Abstract excerpt
BACKGROUND AND PURPOSE: Diagnostic criteria for adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to colony-stimulating factor 1 receptor (CSF1R) mutation have recently been proposed. Our objective was to assess their accuracy in an independent multicenter cohort. METHODS: We evaluated the sensitivity and specificity of the diagnostic criteria for ALSP (including the "probable"...
Topics
- Adult
- Humans
- Leukoencephalopathies
- Magnetic Resonance Imaging
- Mutation
- Neuroglia
- Receptors, Colony-Stimulating Factor
- White Matter