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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, 2017-11-06
Topic: Brain proteins, microglia and lab models
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder. ALSP was previously recognized as two distinct entities, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). However, recent identification of mutations in the tyrosine kinase domain of the colony stimulating factor 1 receptor (CSF1R) gene, which regulates mononuclear cell lineages including microglia, have provided genetic and mechanistic evidence that POLD and HDLS should be regarded as a single clinicopathologic entity. We describe two illustrative cases of ALSP which presented with neuropsychiatric symptoms, progressive cognitive decline, and motor and gait disturbances. Antemortem diagnoses of autopsy-confirmed ALSP vary significantly, and include primary progressive multiple sclerosis, frontotemporal dementia, Alzheimer disease, atypical cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), corticobasal syndrome, and atypical Parkinson disease, suggesting that ALSP may be significantly underdiagnosed. This article presents a systematic review of ALSP in the context of two illustrative cases to help integrate the literature on HDLS and POLD. Consistent use of the term ALSP is suggested for clarity in the literature going forward.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Adams, S. J., Kirk, A., & Auer, R. N. (2018). 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). Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. https://doi.org/10.1016/j.jocn.2017.10.060
Vancouver
Adams SJ, Kirk A, Auer RN. 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). Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2018. doi:10.1016/j.jocn.2017.10.060. PMID: 29122458.
BibTeX
@article{adams2018-29122458,
author = {Adams, S. J. and Kirk, A. and Auer, R. N.},
title = {{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)}},
journal = {Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia},
year = {2018},
doi = {10.1016/j.jocn.2017.10.060},
pmid = {29122458},
url = {https://doi.org/10.1016/j.jocn.2017.10.060}
}
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Key findings
- Antemortem diagnoses of autopsy-confirmed ALSP vary significantly, and include primary progressive multiple sclerosis, frontotemporal dementia, Alzheimer disease, atypical cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), corticobasal syndrome, and atypical Parkinson disease, suggesting that ALSP may be significantly underdiagnosed.
Why it matters
This article combines two illustrative patient cases with a systematic review of ALSP, a progressive white matter brain disorder linked to mutations in the CSF1R gene, which regulates cells including microglia. Because ALSP has been mistaken in life for conditions including Alzheimer disease and frontotemporal dementia, the authors suggest it may be significantly underdiagnosed and recommend consistently using the single term ALSP.
Study details
- Study designsystematic review
- Evidence strengthHigh
How this study scored 56/100
Published in a peer-reviewed journal, and it is a systematic review of all the studies on the question. Scored zero for sample size and effect reported because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia) |
| Journal's citation record | 1 / 4 | Journal of Clinical Neuroscience: journal h-index 123 (OpenAlex, 2026-10-29) |
| Study design | 12 / 12 | A systematic review of all the studies on the question |
| Strength of evidence | 5 / 5 | Rated “high” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2018 — within 10 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (pubmed indexes it as a clinical or observational study) |
| Randomized / blinded | 0 / 2 | A review of other studies — randomization is not credited here |
| Times cited | 4 / 7 | Cited 74 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 7.4 citations a year over 10 year(s) since 2018 |
| Impact for its field and year | 2 / 6 | Cited 2.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 2 / 4 | Cited 23 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Roland N. Auer: h-index 60 (OpenAlex, whole career) |
| Institution's track record | 0 / 3 | University of Saskatchewan: institution h-index 575 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 29122458) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 56 / 100 | — |
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