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Case Reports
. 2025 Apr 1;84(4):286-292.
doi: 10.1093/jnen/nlaf001.

α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation

Arianna Braccia  1 , Antonio Emanuele Elia  1 , Grazia Devigili  1 , Raffaella Lombardi  2 , Alessia Luppino  1 , Samanta Mazzetti  1 , Celeste Panteghini  3 , Isabel Colangelo  3 , Marta Suerz  3 , Sara Maria Portaleone  4 , Anna Maria Perilli  1 , Chiara Maria Giulia De Luca  5 , Arianna Ciullini  5 , Ilaria Linda Dellarole  5 , Roberta Telese  1 , Barbara Garavaglia  3 , Fabio Moda  6 , Roberto Eleopra  1
Affiliations
Case Reports

α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation

Arianna Braccia et al. J Neuropathol Exp Neurol. .

Abstract

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.

Keywords: EIF4G1 gene; RT-QuIC: skin biopsy; familial Parkinson disease; α-synuclein.

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