Cerebrospinal Fluid Biomarker Profile in TDP-43-Related Genetic Frontotemporal Dementia

• Published in: Journal of personalized medicine Vol. 12; no. 10; p. 1747
• Main Authors: Kapaki, Elisabeth, Boufidou, Foteini, Bourbouli, Mara, Pyrgelis, Efstratios-Stylianos, Constantinides, Vasilios C., Anastassopoulou, Cleo, Paraskevas, George P.
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 21-10-2022; MDPI
• Subjects: Alzheimer's disease; Amyotrophic lateral sclerosis; Atrophy; Biomarkers; Brain damage; Cerebrospinal fluid; Dementia; Dementia disorders; Diagnosis; Family medical history; Frontotemporal dementia; Language disorders; Magnetic resonance imaging; Motor neurone disease; Mutation; Neurodegenerative diseases; Neuropsychology; Patients; Phonology; Precision medicine; Proteins; Tau protein
• ISSN: 2075-4426; 2075-4426
• DOI: 10.3390/jpm12101747

Cerebrospinal fluid (CSF) biomarkers, namely total tau, phospho-tau and amyloid beta peptides, have received much attention specifically regarding Alzheimer’s disease (AD), since they can detect the biochemical fingerprint of AD and serve as a diagnostic tool for accurate and early diagnosis during life. In the same way, biomarkers for other neurodegenerative disease pathologies are also needed. We present a case series of six patients with genetic frontotemporal dementia (FTD), with TDP-43 underlying proteinopathy, in an attempt to assess TDP-43 as a novel biomarker alone and in combination with established AD biomarkers for this specific patient group, based on the principles of personalized and precision medicine. Our results indicate that genetic TDP-43-FTD is characterized by increased CSF TPD-43 and increased TDP-43 × τΤ/τP-181 combination. Hence, TDP-43 combined with tau proteins could be a useful tool for the diagnosis of genetic FTD with TDP-43 underling histopathology, supplementing clinical, neuropsychological and imaging data.