ReviewNeurology. Genetics2017
Redefining the phenotype of ALSP and
Open access · goldAbstract readReview
In one paragraph
Review in Neurology. Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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46citing papers in PubMed
4.3field-weighted citation impact, top 5% of its field
What it found
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Who cites it
46 citing papers in PubMed, 78 citations in OpenAlex.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Advances in Research onGenes · 2026Review
- Soluble CSF1R alleviates microgliopathy in a CSF1R-related leukoencephalopathy (CRL) mouse model.Journal of neuroinflammation · 2025Article
- Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.Journal of molecular neuroscience : MN · 2025Article
- Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).Journal of neurology · 2024Article
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- Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.Cerebellum (London, England) · 2024Review
- Allogenic microglia replacement: A novel therapeutic strategy for neurological disorders.Fundamental research · 2024Review
- Clinical, genetic, and molecular characteristics in a central-southern Chinese cohort of genetic leukodystrophies.Annals of clinical and translational neurology · 2023Article
- The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.Brain : a journal of neurology · 2023Article
- 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.Diagnostics (Basel, Switzerland) · 2023Article
- Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.Frontiers in neurology · 2023Review
- UterusFrontiers in neurology · 2023Article
- Modeling CSF-1 receptor deficiency diseases - how close are we?The FEBS journal · 2022Review
- The Primary Microglial Leukodystrophies: A Review.International journal of molecular sciences · 2022Review
- Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.Journal of assisted reproduction and genetics · 2022Article
- The emerging neurological spectrum of AARS2-associated disorders.Parkinsonism & related disorders · 2021Review
- Case report: 'AARS2 leukodystrophy'.Molecular genetics and metabolism reports · 2021Article
- Differential imaging of atypical demyelinating lesions of the central nervous system.La Radiologia medica · 2021Review
- Is Pre-Symptomatic Immunosuppression Protective in CSF1R-Related Leukoencephalopathy?Movement disorders : official journal of the Movement Disorder Society · 2021Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Rahul LakshmananLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
Matthew E AdamsLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
David S LynchLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
Justin A KinsellaLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
Rahul PhadkeLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
Jonathan M SchottLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
Elaine MurphyLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
Jonathan D RohrerLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
Jeremy ChatawayLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
Henry HouldenLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
Nick C FoxLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
Indran DavagnanamLysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.
University College London · GBNational Hospital for Neurology and Neurosurgery · GBSt. Vincent's University Hospital · IEUniversity College Dublin · IE
Funding
Medical Research Council G0802760Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MR/J004758/1Medical Research Council MR/L023784/2Wellcome Trust
Abstract
objectiveTo provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation-related leukodystrophy (
methodsALSP and
resultsA combined total of 74 cases of ALSP and 10 cases of
conclusionsALSP and
Identifiers
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