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Case report Open access Oct 2026

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

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 tec...

P. Caroppo, V. Aprea, C. Villa et al. · 0 citations
Open access Sep 2026

APOE-stratified genome-wide association analyses provide insights into the genetic etiology of Alzheimers’s disease

Understanding of the genetic architecture of AD in the context of its main genetic driver is improved, and APOE-stratified insights may help understand and overcome side effects, inform clinical trial enrollment strategies, and create the scientific basis for targeted, mechanism-driven therapies in neurodegenerative di...

J. Thomassen, H. Leonard, Brittany Ulms et al. · 0 citations
Open access Aug 2026

Educational attainment and sex modulate clinical outcomes in genetic frontotemporal dementia

Sex and educational attainment significantly affect the development and maintenance of cognitive reserve in individuals with genetic FTD, and underscore the importance of identifying disease-modifying interventions since the presymptomatic stages of the disease.

E. Premi, Damiano Archetti, A. Redolfi et al. · 0 citations

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