Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.
CSF1R
ALSP
MRI
adult onset leukoencephalopathy
leukodystrophy
Journal
European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
revised:
08
09
2021
received:
08
07
2021
accepted:
09
09
2021
pubmed:
21
9
2021
medline:
5
4
2022
entrez:
20
9
2021
Statut:
ppublish
Résumé
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. 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. 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%. 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.
Sections du résumé
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.
Substances chimiques
Receptors, Colony-Stimulating Factor
0
Types de publication
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
329-334Informations de copyright
© 2021 European Academy of Neurology.
Références
Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, et al. Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. Brain. 2015;138:284-292.
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI. Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol. 2019;18:962-972.
Lynch DS, Wade C, de Paiva ARB, et al. Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era. J Neurol Neurosurg Psychiatry. 2019;90:543-554.
Ahmed RM, Murphy E, Davagnanam I, et al. A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatr. 2014;85:770-781.
Köhler W, Curiel J, Vanderver A. Adulthood leukodystrophies. Nat Rev Neurol. 2018;14:94-105.
Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2012;44:200-205.
Guerreiro R, Kara E, Le Ber I, et al. Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol. 2013;70:875-882.
Konno T, Kasanuki K, Ikeuchi T, Dickson DW, Wszolek ZK. CSF1R-related leukoencephalopathy: a major player in primary microgliopathies. Neurology. 2018;91:1092-1104.
Codjia P, Ayrignac X, Mochel F, et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: an MRI Study of 16 French Cases. AJNR Am J Neuroradiol. 2018;39:1657-1661.
Prieto-Morin C, Ayrignac X, Ellie E, Tournier-Lasserve E, Labauge P. CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis. J Neurol. 2016;263:1864-1865.
Saitoh B, Yamasaki R, Hayashi S, et al. A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. Mult Scler. 2013;19:1367-1370.
Lubomski M, Buckland ME, Sy J, et al. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia mimicking systemic lupus erythematosus cerebral vasculitis. J Neurol Sci. 2018;395:25-28.
Purohit B, Johandi F, Sitoh YY, Ng A, Tham C. Adult-onset diffuse leukoencephalopathy with axonal spheroids and pigmented glia presenting with acute stroke-like symptoms: a rare clinical scenario. Radiology Case Reports. 2020;15:1915-1920.
Mochel F, Delorme C, Czernecki V, et al. Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. J Neurol Neurosurg Psychiatry. 2019;90:1375-1376.
Gelfand JM, Greenfield AL, Barkovich M, et al. Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia. Brain. 2020;143:503-511.
Eichler FS, Li J, Guo Y, et al. CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain. 2016;139:1666-1672.
Han J, Sarlus H, Wszolek ZK, Karrenbauer VD, Harris RA. Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy. Acta Neuropathol Commun. 2020;8:217.
Konno T, Yoshida K, Mizuta I, et al. Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation. Eur J Neurol. 2018;25:142-147.
Konno T, Broderick DF, Mezaki N, et al. Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. AJNR Am J Neuroradiol. 2017;38:77-83.
Ayrignac X, Nicolas G, Carra-Dallière C, Hannequin D, Labauge P. Brain calcifications in adult-onset genetic leukoencephalopathies: a review. JAMA Neurol. 2017;74:1000-1008.
Sundal C, Baker M, Karrenbauer V, et al. Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. Eur J Neurol. 2015;22:328-333.
Sundal C, Van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology. 2012;79:566-574.
Bender B, Klose U, Lindig T, et al. Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). J Neurol. 2014;261:2351-2359.
Terasawa Y, Osaki Y, Kawarai T, et al. Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids. J Neurol Sci. 2013;335:213-215.
Labauge P, Horzinski L, Ayrignac X, et al. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain. 2009;132:2161-2169.
Labauge P, Carra-Dalliere C, Menjot de Champfleur N, Ayrignac X, Boespflug-Tanguy O. MRI pattern approach of adult-onset inherited leukoencephalopathies. Neurol Clin Pract. 2014;4:287-295.
Vanderver A, Simons C, Helman G, et al. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016;79:1031-1037.
Mahmood A, Raymond GV, Dubey P, Peters C, Moser HW. Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study. Lancet Neurol. 2007;6:687-692.