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  • Title: Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.
    Author: Ayrignac X, Carra-Dallière C, Codjia P, Mouzat K, Castelnovo G, Ellie E, Etcharry-Bouyx F, Belliard S, Marelli C, Portet F, Le Ber I, Durand-Dubief F, Mathey G, Stankoff B, Dorboz I, Drunat S, Boespflug-Tanguy O, Menjot de Champfleur N, Lumbroso S, Mochel F, Labauge P.
    Journal: Eur J Neurol; 2022 Jan; 29(1):329-334. PubMed ID: 34541732.
    Abstract:
    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" and "possible" definitions) in a national cohort of 22 patients with CSF1R mutation, and 59 patients with an alternative diagnosis of adult onset inherited leukoencephalopathy. RESULTS: Overall, the sensitivity of the diagnostic criteria for ALSP was 82%, including nine of 22 patients diagnosed as probable and nine of 22 diagnosed as possible. Twenty of the 59 CSF1R mutation-negative leukoencephalopathies fulfilled the diagnostic criteria, leading to a specificity of 66%. CONCLUSIONS: Diagnostic criteria for ALSP have an overall limited sensitivity along with a modest specificity. We suggest that in patients suspected of genetic leukoencephalopathy, a comprehensive magnetic resonance imaging pattern-based approach is warranted, together with white matter gene panel or whole exome sequencing.
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