In vivo detection of pathologic α- synuclein and TDP-43 in the skin and olfactory mucosa of a patient with Parkinson’s disease-like phenotype carrying the p.Thr272Serfs*10 GRN mutation
Abstract We describe a patient carrying the GRN p.Thr272Serfs*10 mutation, who presented with parkinsonism at onset and later developed prodromal frontotemporal dementia, in whom seed amplification assay on olfactory mucosa and skin analyses suggest mixed TDP-43 and α-synuclein co-pathology, highlighting how combining these techniques could provide a comprehensive approach to investigate the underlying neuropathological process.
Authors
- 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)
- Arianna Ciullini (ORCID: https://orcid.org/0009-0009-6013-6093)
- Marina Grisoli (ORCID: https://orcid.org/0000-0002-7663-446X)
- Paola Caroppo (ORCID: https://orcid.org/0000-0003-4274-9004)
- Sara Prioni (ORCID: https://orcid.org/0000-0001-9632-0591)
- Samanta Mazzetti (ORCID: https://orcid.org/0000-0002-2944-8357)
- Fabio Moda (ORCID: https://orcid.org/0000-0002-2820-9880)
- Aurora Romeo
- Alessia Luppino
- Grazia Devigili (ORCID: https://orcid.org/0000-0001-9688-4231)
- Ilaria Linda Dellarole (ORCID: https://orcid.org/0009-0007-8422-4552)
- Anna Burato (ORCID: https://orcid.org/0009-0004-2196-5861)
- Giulia Simmini
- Cristina Villa
Publication Details
- Journal
- Molecular Neurodegeneration
- Published
- 2026-10-01
- DOI
- https://doi.org/10.1186/s13024-026-01000-9
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00