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
Author Information
Emanuele Morena: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy. ORCID
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. ORCID
Gianmarco Bellucci: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy. ORCID
Silvia Romano: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy. ORCID
Daniela Scarabino: Institute of Molecular Biology and Pathology, National Research Council, 00185 Rome, Italy. ORCID
Marco Salvetti: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy. ORCID
Giovanni Ristori: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy.
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 () 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.
