ArticleAJNR. American journal of neuroradiology2004
MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.
Article in AJNR. American journal of neuroradiology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01971957 (Sjogren-Larsson Syndrome), which is not on this map. Cited by 33 papers.
What it found
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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.
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.
Sjogren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers
Who cites it
33 citing papers in PubMed, 88 citations in OpenAlex.
- Detection and characterization of neurotoxicity in cancer patients using proton MR spectroscopy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2008Trial
- Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome.Molecular syndromology · 2026Article
- Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.Arquivos de neuro-psiquiatria · 2023Article
- Magnetic resonance imaging of disorders with white matter changes in children and adolescents: a pictorial essay.Pediatric radiology · 2023Review
- Article
- Phytanic acid, an inconclusive phytol metabolite: A review.Current research in toxicology · 2023Article
- Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine · 2022Article
- In vivo Human MR Spectroscopy Using a Clinical Scanner: Development, Applications, and Future Prospects.Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine · 2022Review
- A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.Journal of child neurology · 2021Article
- Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.Paediatric anaesthesia · 2020Article
- Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.Journal of inherited metabolic disease · 2020Article
- Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.JIMD reports · 2020Article
- Sjogren-Larsson Syndrome: Mechanisms and Management.The application of clinical genetics · 2020Review
- Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.Journal of human genetics · 2019Article
- Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.BMJ case reports · 2016Article
- Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.Expert opinion on orphan drugs · 2016Article
- Article
- Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.Journal of inherited metabolic disease · 2015Review
- Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.Journal of child neurology · 2013Article
- A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.Annals of Indian Academy of Neurology · 2013Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeSjögren-Larsson syndrome (SLS) is a neurocutaneous syndrome caused by a genetic enzyme deficiency in lipid metabolism. Our purpose was to characterize the nature of the cerebral involvement in SLS.
methodsMR imaging was performed in 18 patients (aged 5 months to 45 years) and repeated in 14. Single-voxel proton MR spectra were acquired from cerebral white matter and gray matter in 16 patients, with follow-up studies in 11. LCModel fits were used to determine brain metabolite levels.
resultsMR imaging showed retardation of myelination and a mild persistent myelin deficit. A zone of increased signal intensity was seen in the periventricular white matter on T2-weighted images. Proton MR spectroscopy of white matter revealed a prominent peak at 1.3 ppm, normal levels of N-acetylaspartate, and elevated levels of creatine (+14%), choline (+18%), and myo-inositol (+54%). MR imaging and proton MR spectroscopy of gray matter were normal. In the two patients examined during the first years of life, abnormalities on MR imaging and proton MR spectroscopy gradually emerged and then stabilized, as in all other patients.
conclusionAbnormalities on MR imaging and proton MR spectroscopy emerge during the first years of life and are similar in all patients with SLS, but the severity varies. The changes are confined to cerebral white matter and suggest an accumulation of lipids, periventricular gliosis, delayed myelination, and a mild permanent myelin deficit.
Indexed as
Identifiers
15090362PMC7975598W2168221075What 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.