Journal of neuropathology and experimental neurology · 2025
α-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation.
СтатьяКлинический случайПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.