ArticleJournal of lipid research2010
Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.
Article in Journal of lipid research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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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.
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Who cites it
63 citing papers in PubMed, 116 citations in OpenAlex.
- Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.Brain : a journal of neurology · 2017Trial
- The diverse forms and roles of the neuronal endoplasmic reticulum.Nature reviews. Neuroscience · 2026Review
- Role of LXRβ in oligodendrocytes in neuronal survival.Molecular psychiatry · 2026Article
- AAV8-based gene replacement therapy for hereditary spastic paraplegia type 5.Molecular therapy. Methods & clinical development · 2025Article
- Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases.Neurogenetics · 2025Article
- ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway.Life science alliance · 2024Article
- Vitamin DScientific reports · 2024Article
- Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.International journal of molecular sciences · 2024Review
- Oxy- and Phytosterols as Biomarkers: Current Status and Future Perspectives.Advances in experimental medicine and biology · 2024Article
- 25-Hydroxycholesterol in health and diseases.Journal of lipid research · 2024Review
- The Diagnostic Use of the Plasma Quantification of 24S-Hydroxycholesterol and Other Oxysterols in Neurodegenerative Disease.Advances in experimental medicine and biology · 2024Article
- Enzymatically Formed Oxysterols and Cell Death.Advances in experimental medicine and biology · 2024Review
- Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.Orphanet journal of rare diseases · 2023Article
- The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.International journal of molecular sciences · 2022Review
- Article
- Hereditary Spastic Paraplegia: An Update.International journal of molecular sciences · 2022Review
- Importance of lipids for upper motor neuron health and disease.Seminars in cell & developmental biology · 2021Review
- Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery.Brain sciences · 2021Review
- Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Current neurology and neuroscience reports · 2021Review
- 27-Hydroxycholesterol regulates human SLC22A12 gene expression through estrogen receptor action.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
Patients with a recessively inherited "pure" hereditary spastic paresis (SPG5) have mutations in the gene coding for the oxysterol 7 alpha hydroxylase (CYP7B1). One of the expected metabolic consequences of such mutations is accumulation of oxysterol substrates due to decreased enzyme activity. In accordance with this, we demonstrate here that four patients with the SPG5 disease have 6- to 9-fold increased plasma levels of 27-hydroxycholesterol. A much higher increase, 30- to 50-fold, was found in cerebrospinal fluid. The plasma levels of 25-hydroxycholesterol were increased about 100-fold. There were no measurable levels of this oxysterol in cerebrospinal fluid. The pattern of bile acids in serum was normal, suggesting a normal bile acid synthesis. The findings are discussed in relation to two transgenic mouse models with increased levels of 27-hydroxy cholesterol in the circulation but without neurological symptoms: the cyp27a1 transgenic mouse and the cyp7b1 knockout mouse. The absolute plasma levels of 27-hydroxycholesterol in the latter models are, however, only about 20% of those in the SPG5 patients. If the accumulation of 27-hydroxycholesterol is an important pathogenetic factor, a reduction of its levels may reduce or prevent the neurological symptoms. A possible strategy to achieve this is discussed.
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Registered trials
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