Serum Biomarkers in Adult Patients with Tuberous Sclerosis Complex: Clues of Neuroinflammation
Abstract number :
3.117
Submission category :
2. Translational Research / 2C. Biomarkers
Year :
2022
Submission ID :
2205092
Source :
www.aesnet.org
Presentation date :
12/5/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:28 AM
Authors :
Alessandra Morano, Medical doctor, Neurologist, Philosophiae Doctor – Sapienza University of Rome; Biagio Orlando, MD – Sapienza University of Rome; emanuele Cerulli Irelli, MD – Dipartimento di Neuroscienze Umane – Sapienza University of Rome; enrico salamone, MD – Dipartimento di Neuroscienze Umane – Sapienza University of Rome; valeria Manzini, PhD – Fondazione European Brain Research Institute, EBRI, Roma; chiara D'Amelio, PhD – Fondazione European Brain Research Institute, EBRI, Roma; Caterina Veroni, PhD – Dipartimento di Neuroscienze – Istituto Superiore di Sanità, Roma; Elisa Moliterni, MD – Dipartimento di Scienze Odontostomatologiche e maxillo-facciale – Sapienza University of Rome; Anna Giallonardo, MD – Dipartimento di Neuroscienze Umane – Sapienza University of Rome; Sandra Giustini, MD – Dipartimento di Scienze Cliniche, Internistiche, Anestesiologiche e Cardiovascolari, – Sapienza University of Rome; Ivan Arisi, PhD – Fondazione European Brain Research Institute, EBRI, Roma; Mara D'Onofrio, MD, PhD – Fondazione European Brain Research Institute, EBRI, Roma; Paola Piscopo, PhD – Dipartimento di Neuroscienze – Istituto Superiore di Sanità, Roma; Carlo Di Bonaventura, MD, PhD – Dipartimento di Neuroscienze Umane – Sapienza University of Rome
Rationale: Tuberous sclerosis complex (TSC) is an autosomal-dominantly inherited neurocutaneous syndrome related to the hyperactivation of the mammalian target of rapamicine (mTOR) pathway.1 Among TSC manifold neurological manifestations, epilepsy, intellectual disability (ID) and psychiatric/behavioral disorders are of paramount importance. Recent evidence has also suggested there might be a clinical and pathophysiological overlap between some tauopathies and TSC.2,3 The aim of our study is to investigate possible correlations between biomarkers of neurodegeneration and neuroinflammation and anatomo-clinical features in an adult TSC cohort.
Methods: Thirty-one adult TSC patients followed at Policlinico Umberto I of Rome have been enrolled. Several biomarkers (Neurofibrillary Light Chain [NfL], pTau181, tTau, Aβ40, Aβ42 and Glial Fibrillary Acid Protein [GFAP]) have been assessed in the patients’ sera by using the Quanterix-SIMOA assay, in comparison with a group of 37 age- and sex-matched healthy controls (HC). Clinical and radiological features have been collected by reviewing clinical charts and brain MRI scans.
Results: TSC patients had significantly higher levels of NfL (p= 0.017) and GFAP (p< 0.001) than HC, whereas only a trend was observed for Aβ40 (p= 0.057) and Aβ42 (p= 0.056). GFAP strongly correlated with severe ID (p< 0.001), autism spectrum disorder (p= 0.008) and epileptic spasms (p= 0.003), and was shown to be a better predictor of the severity of the neuropsychiatric profile of TSC patients than the burden of brain MRI-detected lesions (i.e., cortical tubers, subependymal nodules, subependymal giant astrocytomas).
Translational Research