The HTT gene influences plasma neurofilament light chain and brain metabolism in prodromal Alzheimer’s disease
Among individuals with SCD and MCI who show evidence of AD pathology, CAG repeat length in the HTT gene below the HD pathological threshold is associated with biomarkers of neurodegeneration in a region-specific and U-shaped manner. These findings suggest a modulatory role of HTT in prodromal AD.
Authors
- Massimo Filippi (ORCID: https://orcid.org/0000-0002-5485-0479)
- Valentina Moschini
- Sandro Sorbi (ORCID: https://orcid.org/0000-0002-0380-6670)
- Matilde Nerattini (ORCID: https://orcid.org/0000-0002-1182-4748)
- Valentina Bessi (ORCID: https://orcid.org/0000-0002-6176-3584)
- Sonia Padiglioni
- Alberto Mazzoni (ORCID: https://orcid.org/0000-0002-9632-1831)
- Giulia Giacomucci (ORCID: https://orcid.org/0000-0002-8711-331X)
- Carmen Morinelli
- Salvatore Mazzeo (ORCID: https://orcid.org/0000-0001-5985-5060)
- Filippo Emiliani
- Benedetta Nacmias (ORCID: https://orcid.org/0000-0001-9338-9040)
- Giulia Galdo
- Michael Lassi (ORCID: https://orcid.org/0000-0002-8805-0293)
- Silvia Bagnoli (ORCID: https://orcid.org/0000-0002-4373-6611)
- Maria Salsone (ORCID: https://orcid.org/0000-0001-5375-3733)
- Valentina Berti (ORCID: https://orcid.org/0000-0001-9947-6559)
- Assunta Ingannato (ORCID: https://orcid.org/0000-0003-4955-0321)
- Chiara Crucitti
Institutions
- Piaggio (Italy) (IT)
- Vita-Salute San Raffaele University (IT)
- Scuola Superiore Sant'Anna (IT)
- IRCCS Policlinico San Donato (IT)
- Azienda Ospedaliero-Universitaria Careggi (IT)
- Don Carlo Gnocchi Foundation (IT)
- IRCCS Ospedale San Raffaele (IT)
- Agenzia Regionale di Sanità della Toscana (IT)
- University of Florence (IT)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-08-22
- DOI
- https://doi.org/10.1007/s00415-025-13312-9
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Università degli Studi di Firenze
- Regione Toscana
- Ministero dell'Università e della Ricerca