This observational case series summarizes clinical experiences with 4-aminopyridine (4-AP) and acetyl-DL-leucine (ADLL) in patients with RFC1 -related disorders treated under named patient use conditions. Clinical data from 30 patients treated at four university centers in Germany, Switzerland, and France were analyzed. Except for three patients previously enrolled in the ALCAT randomized crossover trial, treatments were initi...

Dermal absorption values are used to translate external dermal exposure into potential systemic exposure for non-dietary risk assessment of pesticides. While the Environmental Protection Agency of the United States of America (US EPA) derives a common dermal absorption factor for active substances covering all related products, the European Food Safety Authority (EFSA) requests specific product-based estimates for individual c...

Downbeat nystagmus (DBN) is a frequent form of acquired persisting central fixation nystagmus, often associated with other cerebellar ocular signs, such as saccadic smooth pursuit or gaze-holding deficits. Despite its distinct clinical features, the underlying etiology of DBN often remains unclear. Therefore, a genome-wide association study (GWAS) was conducted in 106 patients and 2609 healthy controls of European ancestry to...