Plasma Biomarker Profile and Clinical Correlations in Adult Patients With Tuberous Sclerosis Complex.

Male Female Humans Adult Autism Spectrum Disorder / genetics Tuberous Sclerosis / genetics Biomarkers Astrocytes Genotype Glial Fibrillary Acidic Protein / genetics

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
07 11 2023
Historique:
received: 24 03 2023
accepted: 10 07 2023
pmc-release: 07 11 2024
medline: 8 11 2023
pubmed: 1 9 2023
entrez: 31 8 2023
Statut: ppublish

Résumé

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. 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, Abeta 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, 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.

Identifiants

DOI: 10.1212/WNL.0000000000207799 PMID: 37652704 PMC: PMC10663002
pubmed: 37652704
pii: WNL.0000000000207799
doi: 10.1212/WNL.0000000000207799
pmc: PMC10663002
doi:

Substances chimiques

Biomarkers 0
Glial Fibrillary Acidic Protein 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e1933-e1938

Informations de copyright

© 2023 American Academy of Neurology.

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Auteurs

Biagio Orlando (B)

From 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.).
ORCID: 0009-0003-7019-9334

Alessandra Morano (A)

From 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.).
ORCID: 0000-0003-3649-8990

Valeria Manzini (V)

From 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.).
ORCID: 0000-0002-2224-3594

Emanuele Cerulli Irelli (E)

From 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.).

Maria S Borioni (MS)

From 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.).
ORCID: 0009-0002-5450-483X

Caterina Veroni (C)

From 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.).
ORCID: 0000-0002-6043-1051

Enrico Michele Salamone (EM)

From 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.).
ORCID: 0000-0002-9619-7455

Chiara D'Amelio (C)

From 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.).
ORCID: 0009-0003-8936-6032

Elisa Moliterni (E)

From 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.).
ORCID: 0000-0003-2010-3958

Sandra Giustini (S)

From 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.).
ORCID: 0000-0001-7034-3816

Gabriele Ruffolo (G)

From 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.).
ORCID: 0000-0002-6554-5496

Ivan Arisi (I)

From 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.).
ORCID: 0000-0002-0536-2508

Mara D'Onofrio (M)

From 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.).
ORCID: 0000-0002-5199-7918

Anna T Giallonardo (AT)

From 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.).
ORCID: 0000-0003-3315-6071

Paola Piscopo (P)

From 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.).
ORCID: 0000-0002-0693-4969

Carlo Di Bonaventura (C)

From 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.). c_dibonaventura@yahoo.it.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Plasma Biomarker Profile and Clinical...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Plasma Biomarker Profile and Clinical...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Troubles généralisés du développement de l'enfant › Trouble du spectre autistique › Plasma Biomarker Profile and Clinical...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndromes néoplasiques héréditaires › Complexe de la sclérose tubéreuse › Plasma Biomarker Profile and Clinical...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Plasma Biomarker Profile and Clinical...
questionsmedicales.fr › Cellules › Névroglie › Astrocytes › Plasma Biomarker Profile and Clinical...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Plasma Biomarker Profile and Clinical...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines de filaments intermédiaires › Protéine gliofibrillaire acide › Plasma Biomarker Profile and Clinical...