A5090267388- Parkinson's Disease Mechanisms and Treatments
- Alzheimer's disease research and treatments
- Olfactory and Sensory Function Studies
- Biochemical Analysis and Sensing Techniques
- Botulinum Toxin and Related Neurological Disorders
- Neurological diseases and metabolism
Fondazione IRCCS Istituto Neurologico Carlo Besta
2022-2025
Abstract The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. objective this study was to describe the phenotype and α-synuclein distribution in peripheral tissues 2 related PD patients (mother daughter), who are carriers same variant exon 10 (c.1216G>A, p.Gly406Arg). We used Burghart Sniffin Sticks test for olfactory function. α-Synuclein mucosa skin samples analyzed using RT-QuIC, double immunofluorescence,...
Abstract Most neurodegenerative diseases lack definitive diagnostic tests, and the identification of easily accessible reliable biomarkers remains a critical unmet need. Since tau protein is highly expressed in skin tauopathies patients, we aimed to exploit ultrasensitive seeding activity assay (SAA) assess patients with tauopathies. In this multicentric, case-control study, synucleinopathies were consecutively recruited sex-matched healthy controls (HC). Subjects underwent double 3 mm...