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.· Molecular Neurodegeneration· 0 citations
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.· Nature Genetics· 0 citations
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.· Brain Communications· 0 citations
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