The path to biomarker-based diagnostic criteria for the spectrum of neurodegenerative diseases.

The path to biomarker-based diagnostic criteria for the spectrum of neurodegenerative diseases. Expert Rev Mol Diagn. 2020 Feb 17;: Authors: Baldacci F, Mazzucchi S, Della Vecchia A, Giampietri L, Giannini N, Maya KH, Ceravolo R, Siciliano G, Bonuccelli U, Elahi FM, Vergallo A, Lista S, Giorgi FS, Hampel H Abstract Introduction: The post-mortem examination still represents the reference standard for detecting the pathological nature of chronic neurodegenerative diseases (NDD). This approach displays intrinsic conceptual limitations since NDD represent a dynamic spectrum of partially overlapping phenotypes, shared pathomechanistic alterations that often give rise to mixed pathologies.Areas covered: We scrutinized the international clinical diagnostic criteria of NDD and the literature to provide a roadmap toward a biomarker-based classification of the NDD spectrum. A few pathophysiological biomarkers have been established for NDD. These are time-consuming, invasive and not suitable for preclinical detection. Candidate screening biomarkers are gaining momentum. Blood neurofilament light-chain represents a robust first-line tool to detect neurodegeneration tout court and serum progranulin help detect genetic frontotemporal dementia. Ultrasensitive assays and retinal scans may identify Aβ pathology early, in blood and the eye, respectively. Ultrasound also represents a minimally invasive option to investigate the substantia nigra. Prote...
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research