Detection of TDP‐43 seeds in CSF of presymptomatic and symptomatic genetic FTD/ALS
Seed amplification assay of transactive response (TAR) DNA-binding protein 43 (TDP-43_SAA) can detect misfolded TDP-43 in the cerebrospinal fluid (CSF) of patients with genetic frontotemporal dementia (FTD), linked to GRN and C9orf72 mutations. TDP-43_SAA can detect misfolded TDP-43 also in the CSF of presymptomatic individuals. In both groups, most TDP-43_SAA positive cases were carriers of GRN mutation. Two GRN carriers that resulted TDP-43_SAA positive converted to the symptomatic phase of the disease.
Authors
- John Cornelis Van Swieten (ORCID: https://orcid.org/0000-0001-6278-6844)
- Giuseppe Legname (ORCID: https://orcid.org/0000-0003-0716-4393)
- Vittoria Aprea (ORCID: https://orcid.org/0000-0003-4852-1721)
- Giacomina Rossi (ORCID: https://orcid.org/0000-0001-6680-2725)
- Cristina Villa (ORCID: https://orcid.org/0000-0002-2125-2886)
- Eleonora Dalla Bella (ORCID: https://orcid.org/0000-0001-6267-9651)
- Luigi Celauro (ORCID: https://orcid.org/0000-0002-5731-3257)
- Marcella Catania (ORCID: https://orcid.org/0000-0003-0370-1905)
- Paola Caroppo (ORCID: https://orcid.org/0000-0003-4274-9004)
- Harro Seelaar (ORCID: https://orcid.org/0000-0003-1989-7527)
- Erika Salvi (ORCID: https://orcid.org/0000-0002-2724-2291)
- Fabio Moda (ORCID: https://orcid.org/0000-0002-2820-9880)
- Antonella Alberici (ORCID: https://orcid.org/0000-0001-7137-717X)
- Nilo Riva (ORCID: https://orcid.org/0000-0002-0513-9517)
- Giuseppe Di Fede (ORCID: https://orcid.org/0000-0003-3537-6713)
- Ilaria Linda Dellarole (ORCID: https://orcid.org/0009-0007-8422-4552)
- Barbara Borroni (ORCID: https://orcid.org/0000-0001-9340-9814)
- Anna Burato (ORCID: https://orcid.org/0009-0004-2196-5861)
- Julie F. H. De Houwer (ORCID: https://orcid.org/0009-0006-8180-0158)
- Aurora Romeo
- Claudia Battipaglia
Institutions
- Scuola Internazionale Superiore di Studi Avanzati (IT)
- University of Milan (IT)
- Erasmus MC (NL)
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- Centro San Giovanni di Dio Fatebenefratelli (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University of Brescia (IT)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/alz.70989
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- EU Joint Programme – Neurodegenerative Disease Research
- Ministero della Salute