Research & Literature

Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.

Robinson JL, Suh E, Wood EM, et al.

Acta neuropathologica communications 2015; (3()):42 doi:10.1186/s40478-015-0219-x.

A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene.

Kawakami I, Iseki E, Kasanuki K, et al.

Journal of the neurological sciences 2016; (367()):349-55.

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: lesion staging and dynamic changes of axons and microglial subsets.

Oyanagi K, Kinoshita M, Suzuki-Kouyama E, et al.

Brain pathology (Zurich, Switzerland) 2017; (27(6)):748-769 doi:10.1111/bpa.12443.

Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

Konno T, Broderick DF, Mezaki N, et al.

AJNR. American journal of neuroradiology 2017; (38(1)):77-83 doi:10.3174/ajnr.A4938.

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

Konno T, Yoshida K, Mizuno T, et al.

European journal of neurology 2017; (24(1)):37-45 doi:10.1111/ene.13125.

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.

Lakshmanan R, Adams ME, Lynch DS, et al.

Neurology. Genetics 2017; (3(2)):e135 doi:10.1212/NXG.0000000000000135.

Cognitive dysfunction and symptoms of movement disorders in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Ikeuchi T, Mezaki N, Miura T

Parkinsonism & related disorders 2018; (46 Suppl 1()):S39-S41 doi:10.1016/j.parkreldis.2017.08.018.

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.

Konno T, Yoshida K, Mizuta I, et al.

European journal of neurology 2018; (25(1)):142-147 doi:10.1111/ene.13464.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).

Adams SJ, Kirk A, Auer RN

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2018; (48()):42-49 doi:10.1016/j.jocn.2017.10.060.

AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.

Taglia I, Di Donato I, Bianchi S, et al.

Acta neurologica Scandinavica 2018; (138(4)):278-283 doi:10.1111/ane.12954.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases.

Codjia P, Ayrignac X, Mochel F, et al.

AJNR. American journal of neuroradiology 2018; (39(9)):1657-1661 doi:10.3174/ajnr.A5744.

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Miura T, Mezaki N, Konno T, et al.

Journal of neurology 2018; (265(10)):2415-2424 doi:10.1007/s00415-018-9017-2.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: Clinical and imaging characteristics.

Makary MS, Awan U, Kisanuki YY, Slone HW

The neuroradiology journal 2019; (32(2)):139-142 doi:10.1177/1971400918822136.

A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus.

Wang M, Zhang X

Neurogenetics 2019; (20(3)):155-160 doi:10.1007/s10048-019-00579-0.

Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy.

Kondo Y, Matsushima A, Nagasaki S, et al.

European journal of neurology 2020; (27(2)):369-375 doi:10.1111/ene.14086.

Biopsy histopathology in the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

Mao C, Zhou L, Zhou L, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(2)):403-409 doi:10.1007/s10072-019-04116-7.

Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.

Gelfand JM, Greenfield AL, Barkovich M, et al.

Brain : a journal of neurology 2020; (143(2)):503-511 doi:10.1093/brain/awz390.

Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review.

Zhuang LP, Liu CY, Li YX, et al.

Annals of translational medicine 2020; (8(1)):11 doi:10.21037/atm.2019.12.17.

Adult-onset diffuse leukoencephalopathy with axonal spheroids and pigmented glia presenting with acute stroke-like symptoms: A rare clinical scenario.

Purohit B, Johandi F, Sitoh YY, et al.

Radiology case reports 2020; (15(10)):1915-1920 doi:10.1016/j.radcr.2020.07.067.

Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground.

Tipton PW, Kenney-Jung D, Rush BK, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(12)):2901-2909 doi:10.1002/mds.28734.

Three novel mutations in Chinese patients with CSF1R-related leukoencephalopathy.

Chu M, Wang DX, Cui Y, et al.

Annals of translational medicine 2021; (9(13)):1072 doi:10.21037/atm-21-217.

Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.

Ayrignac X, Carra-Dallière C, Codjia P, et al.

European journal of neurology 2022; (29(1)):329-334 doi:10.1111/ene.15115.

Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.

Hu B, Duan S, Wang Z, et al.

Frontiers in aging neuroscience 2021; (13()):789834 doi:10.3389/fnagi.2021.789834.

Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations.

Mickeviciute GC, Valiuskyte M, Plattén M, et al.

Journal of internal medicine 2022; (291(3)):269-282 doi:10.1111/joim.13420.

Decreased CSF1R Signaling and the Accumulation of Reticular Pseudo-Drusen?

Harford DA, Delaney C, O'Callaghan J, et al.

Ophthalmic surgery, lasers & imaging retina 2021; (52(12)):666-671 doi:10.3928/23258160-20211101-01.

Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.

Papapetropoulos S, Pontius A, Finger E, et al.

Frontiers in neurology 2021; (12()):788168 doi:10.3389/fneur.2021.788168.

Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.

Berdowski WM, van der Linde HC, Breur M, et al.

Acta neuropathologica 2022; (144(2)):211-239 doi:10.1007/s00401-022-02440-5.

Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes.

Dulski J, Heckman MG, White LJ, et al.

Pharmaceutics 2022; (14(12)) doi:10.3390/pharmaceutics14122778.

Report of A Family with Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Without Mutations in CSF1R, AARS1 or AARS2.

Dulski J, Koga S, Dickson DW, Wszolek ZK

Movement disorders clinical practice 2023; (10(2)):307-312 doi:10.1002/mdc3.13650.

Adult-Onset Leukoencephalopathy with Axonal Spheroid and Pigmented Glia: Different Histological Spectrums Presented in Autopsy Cases of Siblings and a Surgical Case of Stereotactic Biopsy.

Kwon HJ, Na DL, Kim HJ, Suh YL

Diagnostics (Basel, Switzerland) 2023; (13(6)) doi:10.3390/diagnostics13061018.

Loss of Ramified Microglia Precedes Axonal Spheroid Formation in Adult-Onset Leukoencephalopathy with Axonal Spheroids.

Alturkustani M, Zhang Q, AlYamany B, Ang LC

Free neuropathology 2020; (1()):27 doi:10.17879/freeneuropathology-2020-2971.

CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology.

Dulski J, Muthusamy K, Lund TC, Wszolek ZK

Parkinsonism & related disorders 2024; (121()):105894 doi:10.1016/j.parkreldis.2023.105894.

Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies.

Papapetropoulos S, Gelfand JM, Konno T, et al.

Frontiers in neurology 2024; (15()):1320663 doi:10.3389/fneur.2024.1320663.

An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders.

Dorion MF, Casas D, Shlaifer I, et al.

Molecular neurodegeneration 2024; (19(1)):31 doi:10.1186/s13024-024-00723-x.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Estimation of pathological lesion stage from brain images.

Kinoshita M, Oyanagi K, Matsushima A, et al.

Journal of the neurological sciences 2024; (461()):123027 doi:10.1016/j.jns.2024.123027.

Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study.

Pan J, Fores-Martos J, Delpirou Nouh C, et al.

Acta neuropathologica communications 2024; (12(1)):139 doi:10.1186/s40478-024-01853-5.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Wade C, Lynch DS

Handbook of clinical neurology 2024; (204()):263-271 doi:10.1016/B978-0-323-99209-1.00005-3.

Hematopoietic stem cell transplantation in leukodystrophies.

Sevin C, Mochel F

Handbook of clinical neurology 2024; (204()):355-366 doi:10.1016/B978-0-323-99209-1.00017-X.

Mapping the journey of patients and care partners living with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: developing a framework for improvements in care.

Rutherford HA, Rush BK, Smith A, et al.

Neurodegenerative disease management 2024; (14(5)):161-172 doi:10.1080/17582024.2024.2404378.

Rescue of in vitro models of CSF1R-related adult-onset leukodystrophy by iluzanebart: mechanisms and therapeutic implications of TREM2 agonism.

Larson KC, Gergits FW, Renoux AJ, et al.

Journal of neuroinflammation 2025; (22(1)):26 doi:10.1186/s12974-025-03346-1.

[Adult leukoencephalopathy with axonal spheroids and pigmented glia].

Rushkevich UN, Pavlovskaya TS, Levshuk ON, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2025; (125(2)):130-136 doi:10.17116/jnevro2025125021130.

Phase 1, First-In-Human, Single-/Multiple-Ascending Dose Study of Iluzanebart in Healthy Volunteers.

Meier A, Papapetropoulos S, Marsh A, et al.

Annals of clinical and translational neurology 2025; (12(5)):1065-1076 doi:10.1002/acn3.70033.

Movement Disorders in CSF1R -Related Leukoencephalopathy: A Case Series.

Kamble N, Harishma RS, Holla VV, et al.

Annals of Indian Academy of Neurology 2025; (28(4)):596-598 doi:10.4103/aian.aian_51_25.

Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.

Yska HAF, Golse M, Beerepoot S, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(9)):1826-1835 doi:10.1002/mds.30282.

A Novel Radiographic and Genetic Variant of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Case Report.

Nichol AA, Ngo AB, Alharthi M, et al.

The Neurohospitalist 2026; (16(2)):197-203 doi:10.1177/19418744251377118.

Case Report: A pharmacist-led precision therapy framework for managing invasive fungal infection in CSF1R-Related leukoencephalopathy post Allo-HSCT.

Lu J, Jia M, Luan X, et al.

Frontiers in pharmacology 2025; (16()):1656503 doi:10.3389/fphar.2025.1656503.

CSF1R-related leukoencephalopathy presenting with early apathy, hypoactivity, and cognitive flattening: a case report of a diagnostic challenge.

Yang W, Li C, Zhang H, Zhang Y

Frontiers in human neuroscience 2026; (20()):1702515 doi:10.3389/fnhum.2026.1702515.

Natural History of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP): A Retrospective Patient Cohort Study.

Hayer SN, McLaren DG, Nance RM, et al.

Neurology and therapy 2026; (15(3)):1269-1292 doi:10.1007/s40120-026-00916-0.

Colony Stimulating Factor-1 Receptor-Related Disorder Treated With Ilunazebart.

Milanowski L, Liskey D, Strongosky AJ, et al.

Neuropathology : official journal of the Japanese Society of Neuropathology 2026; (46(4)):e70066 doi:10.1111/neup.70066.

The ILLUMINATE natural history study in colony-stimulating factor 1 receptor-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Lynch DS, Wade C, Schöls L, et al.

Brain communications 2026; (8(4)):fcag271 doi:10.1093/braincomms/fcag271.