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Plasma Biomarker Profile and Clinical Correlations in Adult Patients With Tuberous Sclerosis Complex
Biagio Orlando1, Alessandra Morano1, Valeria Manzini1
1From the Department of Human Neurosciences (B.O., A.M., E.C.I., M.S.B., E.M.S., A.T.G., C.D.B.), "Sapienza" University of Rome; Fondazione European Brain Research Institute (EBRI) Rita Levi-Montalcini (V.M., C.D.A., I.A., M.D.O.) Department of Neurosciences (C.V., P.P.), Istituto Superiore di Sanità, Rome; Department of Odontostomatological and Maxillofacial Sciences (E.M.), "Sapienza" University of Rome; Department of Clinical Internal (S.G.), Anesthesiological and Cardiovascular Sciences, "Sapienza" University of Rome; Department of Physiology and Pharmacology (G.R.), Istituto Pasteur-Fondazione Cenci Bolognetti, "Sapienza" University of Rome, Italy; and Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) San Raffaele Roma (G.R.).
Objectives:
Different pathophysiologic mechanisms, especially involving astrocytes, could contribute to tuberous sclerosis complex (TSC). We assessed neurodegeneration and astrocytopathy plasma biomarkers in adult patients with TSC to define TSC biomarker profile and investigate clinical-radiologic correlations.
Methods:
Patients with TSC aged 15 years or older followed at Policlinico "Umberto I" of Rome were consecutively enrolled (July 2021-June 2022). The plasma levels of the following biomarkers were compared between patients and age/sex-matched healthy controls (HCs): tTau, pTau181, Abeta40, Abeta42, neurofilament light chain, and glial fibrillary acid protein (GFAP).
Results:
Thirty-one patients (20 females/11 males; median age 30 years, interquartile range 24-47) and 38 HCs were enrolled. Only GFAP was significantly higher in the whole TSC population than in HCs (132.71 [86.14-231.06] vs 44.80 [32.87-66.76] pg/mL, p < 0.001), regardless of genotype. GFAP correlated with the disease clinical (ρ = 0.498, p = 0.005) and radiologic severity (ρ = 0.417, p = 0.001). It was significantly higher in patients with epileptic spasms (254.50 [137.54-432.96] vs 86.92 [47.09-112.76] pg/mL, p < 0.0001), moderate-severe intellectual disability (200.80 [78.40-427.6] vs 105.08 [46.80-152.58] pg/mL, p = 0.040), and autism spectrum disorder (306.26 [159.07-584.47] vs 109.34 [72.56-152.08] pg/mL, p = 0.021).
Discussion:
Our exploratory study documented a significant increase of GFAP plasma concentration in adult patients with TSC, correlated with their neurologic severity, supporting the central role of astrocytopathy in TSC pathophysiology.
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