ArticleAmerican journal of human genetics2006
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 140 citations in OpenAlex.
- OAF Blocks SIAH1-Mediated Degradation of SCPX, a Therapeutic Strategy for MASLD.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- A brief history of the human liver peroxisome.Histochemistry and cell biology · 2026Review
- Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.Journal of inherited metabolic disease · 2025Review
- Review
- Disorders of fatty acid homeostasis.Journal of inherited metabolic disease · 2025Review
- Tandem mass spectrometry of serum cholestanoic (CJournal of mass spectrometry and advances in the clinical lab · 2024Article
- Iron imbalance in neurodegeneration.Molecular psychiatry · 2024Review
- Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.Molecular genetics and metabolism · 2023Article
- Case report: Episodic psychosis caused by a novelFrontiers in neurology · 2023Article
- Role of STAR and SCP2/SCPx in the Transport of Cholesterol and Other Lipids.International journal of molecular sciences · 2022Review
- SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects.Human genomics · 2022Article
- MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders.Genes · 2022Article
- Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.Neurogenetics · 2022Article
- Seizure-Induced Hemoptysis in a Pediatric Patient.Case reports in pediatrics · 2022Article
- Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations.Frontiers in cell and developmental biology · 2022Review
- Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.Clinical genetics · 2021Article
- Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity.International journal of molecular sciences · 2021Review
- Article
- Oxysterols as lipid mediators: Their biosynthetic genes, enzymes and metabolites.Prostaglandins & other lipid mediators · 2020Review
- Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this report, we describe the first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presented with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons. Metabolite analyses of plasma revealed an accumulation of the branched-chain fatty acid pristanic acid, and abnormal bile alcohol glucuronides were excreted in urine. In cultured skin fibroblasts, the thiolytic activity of SCPx was deficient, and no SCPx protein could be detected by western blotting. Mutation analysis revealed a homozygous 1-nucleotide insertion, 545_546insA, leading to a frameshift and premature stop codon (I184fsX7).
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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.