Article
α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation.
Journal of neuropathology and experimental neurology - 1 Apr 2025
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
Abstract excerpt
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...
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