ArticleAmerican journal of medical genetics. Part A2018
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.The Journal of steroid biochemistry and molecular biology · 2026Article
- MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome.bioRxiv : the preprint server for biology · 2025Article
- Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.bioRxiv : the preprint server for biology · 2025Article
- Chronic oligodendrocyte injury in central nervous system pathologies.Communications biology · 2022Review
- Temporal changes in the brain lipidome during neurodevelopment of Smith-Lemli-Opitz syndrome mice.The Analyst · 2022Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ systems. Malformations in the central nervous system typically involve midline structures and reflect abnormal growth and differentiation of neurons and supporting cells. Despite these defects in central nervous system development, brain tumor formation has only rarely been reported in association with SLOS. We present three individuals with SLOS and lesions in the basal ganglia or brainstem detected by MRI that were concerning for tumor formation. However, the individuals' clinical and neurological course remained stable, and the lesions regressed after several years. These lesions have similarities to spongiotic changes observed in individuals with neurofibromatosis type 1 (NF1). Notably, impaired activity of small GTPases is present in both SLOS and NF1, perhaps giving mechanistic insight into the formation of these lesions.
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Registered trials
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