E. Fileccia

TL;DR: In this article, the authors compared real-time quaking-induced conversion (RT-QuIC) and immunofluorescence (i.e., skin and CSF) for detecting misfolded α-synuclein in skin nerves.

TL;DR: Patients with normal corrected Mini-Mental State Examination showed a wide involvement of p-syn deposits in autonomic cholinergic and adrenergic skin nerves compared with PD’s- OH, and patients with neurogenic OH showed a lower load of skin p- syn restricted to adrenergic fibers of SV still persisting over the follow-up period.

TL;DR: The data showed that cervical p-syn deposits displayed a uniform distribution between both sides not following the motor dysfunction in unilateral patients, and skin nerve p- syn deposits demonstrated a spine gradient with the cervical site expressing the highest positivity.

TL;DR: Skin Gb3 deposits are specific to FD patients with classical GLA mutations and are associated with lower skin innervation but they were not found inside axons, suggesting an indirect damage on peripheral small fibre innervation.

TL;DR: Among all biomarkers, NfL yielded the highest diagnostic performance and was the best predictor of disease progression rate and survival in ALS and contribute to the understanding of the pathophysiological and electrophysiological correlates of biomarker changes.