ReviewCellular and molecular neurobiology2004
Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects.
Review in Cellular and molecular neurobiology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
72 citing papers in PubMed, 155 citations in OpenAlex.
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- Brain-Bone Axis in Physiological and Pathological Conditions.International journal of molecular sciences · 2025Review
- Nasu-Hakola Disease: Crippling the Brain and Bones!Annals of Indian Academy of Neurology · 2025Article
- TREM2 risk variants and associated endophenotypes in alzheimer's disease.Alzheimer's research & therapy · 2025Article
- Neuroglial Pathophysiology of Leukodystrophies.Advances in neurobiology · 2025Review
- Targeting TREM2 signaling shows limited impact on cerebrovascular calcification.Life science alliance · 2025Article
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: report of two cases.Dementia & neuropsychologia · 2025Article
- Microglia in Neurodegenerative Diseases.Advances in neurobiology · 2024Review
- Alzheimer risk-increasing TREM2 variant causes aberrant cortical synapse density and promotes network hyperexcitability in mouse models.Neurobiology of disease · 2023Article
- Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant ofJournal of medical genetics · 2023Article
- The role of TREM2 in Alzheimer's disease: from the perspective of Tau.Frontiers in cell and developmental biology · 2023Review
- The Primary Microglial Leukodystrophies: A Review.International journal of molecular sciences · 2022Review
- A Shotgun Proteomic Platform for a Global Mapping of Lymphoblastoid Cells to Gain Insight into Nasu-Hakola Disease.International journal of molecular sciences · 2021Article
- Genetics of Alzheimer's disease.Wiener medizinische Wochenschrift (1946) · 2021Review
- Microglial transcriptome analysis in the rNLS8 mouse model of TDP-43 proteinopathy reveals discrete expression profiles associated with neurodegenerative progression and recovery.Acta neuropathologica communications · 2021Article
- The multicellular interplay of microglia in health and disease: lessons from leukodystrophy.Disease models & mechanisms · 2021Review
- Reactive astrocytes express Aggregatin (Intractable & rare diseases research · 2020Article
- Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.Molecular genetics & genomic medicine · 2020Article
- Impact of TREM2R47H variant on tau pathology-induced gliosis and neurodegeneration.The Journal of clinical investigation · 2020Article
- TMEM59 interacts with TREM2 and modulates TREM2-dependent microglial activities.Cell death & disease · 2020Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The authors review the clinical, radiological, electrophysiological, pathological, and molecular aspects of Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy or PLOSL). Nasu-Hakola disease is a unique disease characterized by multiple bone cysts associated with a peculiar form of neurodegeneration that leads to dementia and precocious death usually during the fifth decade of life. The diagnosis can be established on the basis of clinical and radiological findings. Recently, molecular analysis of affected families revealed mutations in the DAP12 (TYROBP) or TREM2 genes, providing an interesting example how mutations in two different subunits of a multi-subunit receptor complex result in an identical human disease phenotype. The association of PLOSL with mutations in the DAP12 or TREM2 genes has led to improved diagnosis of affected individuals. Also, the possible roles of the DAP12/TREM2 signaling pathway in microglia and osteoclasts in humans are just beginning to be elucidated. Some aspects of this peculiar signaling pathway are discussed here.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.