Castori, Marco, Ritelli, Marco, Zoppi, Nicoletta et al. · American journal of medical genetics. Part A · 2012 · DOI
This case describes a 51-year-old woman diagnosed with arterial tortuosity syndrome (ATS), a rare genetic condition affecting blood vessel structure and strength. She presented with chronic pain, fatigue, joint problems, and heart valve issues. Genetic testing found a new mutation in the SLC2A10 gene responsible for this condition, which is usually diagnosed in children but was discovered here in an adult.
This study is relevant to ME/CFS research because it demonstrates that genetic connective tissue disorders can present with chronic fatigue and widespread pain in adults, sometimes masquerading as primary fatigue syndromes. Understanding rare genetic causes of fatigue and connective tissue abnormalities may help identify subgroups within ME/CFS populations and improve differential diagnosis.
This case report does not establish that SLC2A10 mutations are common in ME/CFS populations or that ATS is a typical cause of ME/CFS. It is a single case and does not determine causation between GLUT10 dysfunction and fatigue mechanisms. The study does not address whether other ME/CFS patients carry similar mutations.
About the PEM badge: “PEM required” means post-exertional malaise was an explicit required diagnostic criterion for participant inclusion in this study — not that PEM was studied, observed, or discussed. Studies using criteria that do not require PEM (e.g. Fukuda, Oxford) are tagged “PEM not required”. How the atlas works →
The first block is for the primary paper and is the citation you should use in research work. The atlas-snapshot line only applies if you are specifically referring to this atlas’s reading of the paper on the date shown.
Primary citation
Castori, Marco, Ritelli, Marco, Zoppi, Nicoletta, Molisso, Luisa, Chiarelli, Nicola, Zaccagna, Fulvio, et al. (2012). Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.35266
BibTeX
@article{mecfsatlas-castori-2012-adult-presentation,
author = {Castori, Marco and Ritelli, Marco and Zoppi, Nicoletta and Molisso, Luisa and Chiarelli, Nicola and Zaccagna, Fulvio and Grammatico, Paola and Colombi, Marina},
title = {Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.},
journal = {American journal of medical genetics. Part A},
year = {2012},
doi = {10.1002/ajmg.a.35266},
note = {PubMed: 22488877},
url = {https://www.mecfsatlas.com/evidence/castori-2012-adult-presentation},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-27. https://www.mecfsatlas.com/evidence/castori-2012-adult-presentation
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