Case report
Open access
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
P. Caroppo
V. Aprea
C. Villa
I. L. Dellarole
A. Romeo
G. Rossi
Arianna Ciullini
Anna Burato
S. Prioni
M. Grisoli
Giuseppe Legname
Giulia Simmini
A. Luppino
S. Mazzetti
F. Moda
G. Devigili
Medicine
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.