Iban Aldecoa

Abstract Whether synucleinopathy-like (syn-like) symptoms match biologically defined synuclein seeding in PSP-parkinsonism (PSP-P) vs. Parkinson’s disease (PD) remains unexplored. We studied 80 subjects: 20 PSP-P, 20 PSP-Richardson-syndrome(PSP-RS), 20 PD, and 20 controls(CS). Procedures included specific smell-testing, structured interview by a sleep specialist, orthostatic-stress test, specific dysautonomia scale, CSF-α-synuclein seed-amplification-assay (asyn-SAA) and neurofilament-levels (NfL).

Introduction Myasthenia gravis (MG) is strongly associated with thymic pathology; approximately 70% of cases are linked to thymic hyperplasia, and up to 15% are related to thymoma (1). Coexisting autoimmune diseases have been reported in 13–22% of MG patients (2, 3) and in 45% of those with thymoma, where they often manifest as paraneoplastic syndromes, present in up to 20% of cases (1).

Abstract Progressive supranuclear palsy (PSP) is a rare 4-repeat tauopathy that causes behavioural, movement and cognitive abnormalities. We genotyped all available clinical and histopathological PSP cases in Spain and Portugal (N = 522), and conducted the largest PSP GWAS of the Iberian population to date. Genetic burden analysis revealed reduced diagnostic specificity in clinically diagnosed atypical PSP cases—when applying the 2017 MDS criteria—compared to Richardson’s syndrome cases.