| Title: |
α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation |
| Authors: |
Braccia, Arianna; Elia, Antonio Emanuele; Devigili, Grazia; Lombardi, Raffaella; Luppino, Alessia; Mazzetti, Samanta; Panteghini, Celeste; Colangelo, Isabel; Suerz, Marta; Portaleone, Sara Maria; Perilli, Anna Maria; De Luca, Chiara Maria Giulia; Ciullini, Arianna; Dellarole, Ilaria Linda; Telese, Roberta; Garavaglia, Barbara; Moda, Fabio; Eleopra, Roberto |
| Contributors: |
A. Braccia; A.E. Elia; G. Devigili; R. Lombardi; A. Luppino; S. Mazzetti; C. Panteghini; I. Colangelo; M. Suerz; S.M. Portaleone; A.M. Perilli; C.M.G. De Luca; A. Ciullini; I.L. Dellarole; R. Telese; B. Garavaglia; F. Moda; R. Eleopra |
| Publication Year: |
2025 |
| Collection: |
The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| Subject Terms: |
EIF4G1 gene; RT-QuIC: skin biopsy; familial Parkinson disease; α-synuclein; Settore BIOS-07/A - Biochimica; Settore BIOS-08/A - Biologia molecolare; Settore BIOS-09/A - Biochimica clinica e biologia molecolare clinica; Settore BIOS-10/A - Biologia cellulare e applicata |
| Description: |
The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. The objective of this study was to describe the phenotype and α-synuclein distribution in peripheral tissues in 2 related PD patients (mother and daughter), who are carriers of the same variant in exon 10 of EIF4G1 (c.1216G>A, p.Gly406Arg). We used the Burghart Sniffin Sticks test for olfactory function. α-Synuclein distribution in the olfactory mucosa and skin samples was analyzed using RT-QuIC, double immunofluorescence, and immunohistochemical staining. Both patients presented with a mild motor syndrome associated with hyposmia as prominent traits; pathological α-synuclein deposits were found in the olfactory mucosa but not in the skin. The phenotype and the findings in peripheral tissues suggest that PARK18 could manifest as a "benign" form of PD associated with hyposmia, with a slow progression and sparse α-synuclein accumulation in the peripheral nervous system. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/39864405; info:eu-repo/semantics/altIdentifier/wos/WOS:001408008200001; volume:84; issue:4; firstpage:286; lastpage:292; numberofpages:7; journal:JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY; https://hdl.handle.net/2434/1140476 |
| DOI: |
10.1093/jnen/nlaf001 |
| Availability: |
https://hdl.handle.net/2434/1140476; https://doi.org/10.1093/jnen/nlaf001 |
| Rights: |
info:eu-repo/semantics/closedAccess |
| Accession Number: |
edsbas.94FDB56C |
| Database: |
BASE |