Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria,European Journal of Neurology

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Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria
European Journal of Neurology ( IF 4.5 ) Pub Date : 2021-09-19 , DOI: 10.1111/ene.15115
Xavier Ayrignac ₁ , Clarisse Carra-Dallière ₂ , Pekes Codjia ₃ , Kevin Mouzat ₄ , Giovanni Castelnovo ₅ , Emmanuel Ellie ₆ , Frédérique Etcharry-Bouyx ₇ , Serge Belliard _{8,

9} , Cecilia Marelli _{10,

11} , Florence Portet ₁₂ , Isabelle Le Ber _{13,

14} , Francoise Durand-Dubief ₃ , Guillaume Mathey ₁₅ , Bruno Stankoff ₁₆ , Imen Dorboz ₁₇ , Severine Drunat _{18,

19} , Odile Boespflug-Tanguy ₁₇ , Nicolas Menjot de Champfleur ₂₀ , Serge Lumbroso ₄ , Fanny Mochel _{21,

22} , Pierre Labauge ₁

Affiliation

Department of Neurology, INM, INSERM, University of Montpellier, Montpellier University Hospital, Montpellier, France.
Department of Neurology, Montpellier University Hospital, Montpellier, France.
Department of Neurology A, Neurological Hospital, Civil Hospices of Lyon, Bron, France.
Laboratory of Biochemistry and Molecular Biology, CHU Nimes, University of Montpellier, Nimes, France.
Department of Neurology, Nîmes University Hospital, Nîmes, France.
Department of Neurology, Bayonne Hospital, Bayonne, France.
Department of Neurology, Resource and Research Memory Center, CHU of Angers, Angers, France.
Department of Neurology, Pontchaillou University Hospital, CMRR, Rennes, France.
Laboratory of Neuropsychology, INSERM U 1077, Caen, France.
EPHE, INSERM, MMDN, University of Montpellier, Montpellier, France.
Expert Center for Neurogenetic Diseases, CHU, Montpellier, France.
University Department of Adult Psychiatry, La Colombière Hospital, Montpellier University Hospital, Montpellier, France.
AP-HP, Reference Center for Rare or Early Onset Dementias, Department of Neurology, DMU Neurosciences, Pitié-Salpêtrière University Hospital, Paris, France.
Sorbonne Université, ICM (Paris Brain Institute), APHP, INSERM, CNRS, Pitié-Salpêtrière University Hospital, Paris, France.
Department of Neurology, Nancy University Hospital, Nancy, France.
Department of Neurology, St. Antoine Hospital, APHP, ICM, Paris, France.
INSERM UMR1141, Sorbonne Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris Diderot University, Paris, France.
Department of Genetics, APHP Robert Debré, Paris, France.
INSERM UMR, 1141, NeuroDiderot, University of Paris, Paris, France.
Department of Neuroradiology, Montpellier University Hospital, Montpellier, France.
Sorbonne University, ICM (Paris Brain Institute), AP-HP, INSERM, CNRS, Pitié-Salpêtrière University Hospital, Paris, France.
APHP, Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.

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.

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