MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights
These findings expand the molecular understanding of ALS to include MAPT mutations. MAPT analysis should be incorporated into ALS genetic screening, particularly in patients with a familial history of the disease. Recognizing the full spectrum of MAPT-linked neurodegenerative diseases is of considerable interest, given the ongoing efforts to develop MAPT-targeted therapies.
Authors
- Stéphanie Millecamps (ORCID: https://orcid.org/0000-0002-0745-6735)
- Philippe Couratier
- Nathalie Guy (ORCID: https://orcid.org/0000-0002-1877-8393)
- Tomoko Miki
- Mathilde Duchesne (ORCID: https://orcid.org/0000-0002-5621-7335)
- Selma Machat
- Danielle Seilhean (ORCID: https://orcid.org/0000-0003-3498-4602)
- Anne‐Laure Fauret‐Amsellem
- Delphine Bohl (ORCID: https://orcid.org/0000-0001-8262-5642)
- Christian S. Lobsiger (ORCID: https://orcid.org/0000-0002-4313-010X)
- Patrick Vourc’h (ORCID: https://orcid.org/0000-0001-7960-8139)
- Frédéric Darios (ORCID: https://orcid.org/0000-0001-9800-5990)
- Séverine Boillée (ORCID: https://orcid.org/0000-0001-5518-9005)
- Maria del Mar Amador (ORCID: https://orcid.org/0000-0003-2667-0785)
- Géraldine Lautrette
- Philippe Corcia
- Sibylle De Bertier
Institutions
- Université de Tours (FR)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Sorbonne Université (FR)
- Centre Hospitalier Universitaire de Tours (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Pitié-Salpêtrière Hospital (FR)
- Institut du Cerveau (FR)
- Hôpital Dupuytren (FR)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-03-18
- DOI
- https://doi.org/10.1007/s00415-025-13007-1
- Citations
- 2
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 2.78
Funders
- Association Française contre les Myopathies
- Agence Nationale de la Recherche
- Fondation pour la Recherche Médicale
- Association pour la Recherche sur la Sclérose Latérale Amyotrophique et autres Maladies du Motoneurone