Peripheral Biomarkers in Manifest and Premanifest Huntington’s Disease

Emanuele Morena; Carmela Romano; Martina Marconi; Selene Diamant; Maria Chiara Buscarinu; Gianmarco Bellucci; Silvia Romano; Daniela Scarabino; Marco Salvetti; Giovanni Ristori

doi:10.3390/ijms24076051

International Journal of Molecular Sciences (Mar 2023)

Peripheral Biomarkers in Manifest and Premanifest Huntington’s Disease

Emanuele Morena,
Carmela Romano,
Martina Marconi,
Selene Diamant,
Maria Chiara Buscarinu,
Gianmarco Bellucci,
Silvia Romano,
Daniela Scarabino,
Marco Salvetti,
Giovanni Ristori

Affiliations

Emanuele Morena: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant’Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy
Carmela Romano: Department of Human Neurosciences, Sant’Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy
Martina Marconi: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant’Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy
Selene Diamant: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant’Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy
Maria Chiara Buscarinu: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant’Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy
Gianmarco Bellucci: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant’Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy
Silvia Romano: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant’Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy
Daniela Scarabino: Institute of Molecular Biology and Pathology, National Research Council, 00185 Rome, Italy
Marco Salvetti: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant’Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy
Giovanni Ristori: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant’Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy

DOI: https://doi.org/10.3390/ijms24076051
Journal volume & issue: Vol. 24, no. 7
p. 6051

Abstract

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Huntington’s disease (HD) is characterized by clinical motor impairment (e.g., involuntary movements, poor coordination, parkinsonism), cognitive deficits, and psychiatric symptoms. An inhered expansion of the CAG triplet in the huntingtin gene causing a pathogenic gain-of-function of the mutant huntingtin (mHTT) protein has been identified. In this review, we focus on known biomarkers (e.g., mHTT, neurofilament light chains) and on new biofluid biomarkers that can be quantified in plasma or peripheral blood mononuclear cells from mHTT carriers. Circulating biomarkers may fill current unmet needs in HD management: better stratification of patients amenable to etiologic treatment; the initiation of preventive treatment in premanifest HD; and the identification of peripheral pathogenic central nervous system cascades.

Published in International Journal of Molecular Sciences

ISSN: 1661-6596 (Print); 1422-0067 (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Science: Biology (General); Science: Chemistry
Website: http://www.mdpi.com/journal/ijms

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