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La Rivista Italiana della Medicina di Laboratorio 2019 Settembre;15(3):185-95

DOI: 10.23736/S1825-859X.19.00028-8


language: Italian

Role of cerebrospinal fluid biomarkers in Alzheimer’s disease

Luigi CINQUANTA 1 , Ignazio BRUSCA 2

1 Laboratorio Centralizzato (HUB), SDN SpA - Synlab Campania, Pagani, Salerno, Italia; 2 Unità Operativa Complessa di Patologia Clinica, Ospedale Buccheri La Ferla FBF, Palermo, Italia

Nearly 44 million people in the world suffer from dementia. Alzheimer’s disease (AD) is considered the most common neurodegenerative disorder and it is one of the major global health problems today. AD is a disorder featuring gradually progressive cognitive impairment, mainly in short-term memory, leading to a gradual loss of independence. The two hallmark pathological changes of AD are the extracellular deposits of the β-amyloid peptide (Aβ) and the neurofibrillary tangles of the microtubule binding protein tau. The beta-amyloid protein fragment 1-42, tau and tau phosphorylated (p-tau) can be used as markers to support the diagnosis of dementias at an early stage of the disease, and provide useful data to discriminate the patients with AD and other forms of dementia (dementia with Lewy bodies, vascular dementia, frontotemporal dementia). There is a need for standardization of both the pre-analytic and the analytic testing phases of the laboratory process in order to harmonize the output of AD biomarkers. In the recent years, researchers have also focused on the identification of new biomarkers exploring the pathological process of AD as axonal damage, dendritic and synaptic degeneration. Among these markers, the most promising appears to be the neurofilament light chain and the neurogranin.

KEY WORDS: Dementia; Amyloid beta-protein (1-42); Tau proteins; Cerebrospinal fluid

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