Francesco Saccà

TL;DR: A phase 3, randomised, double-blind, placebo-controlled, multicentre study in 76 hospitals and specialised clinics across North America, Latin America, Europe, and Asia to assess the efficacy and safety of eculizumab in patients with refractory myasthenia gravis.

TL;DR: The results provide an insight into the genetic structure of sporadic ALS, confirming that common variation contributes to risk and that sufficiently powered studies can identify novel susceptibility loci, and estimated the contribution of common variation to heritability of sporadicALS as ∼12% using a linear mixed model accounting for all SNPs.

TL;DR: The ADAPT trial as discussed by the authors evaluated the safety and efficacy of efgartigimod (ARGX-113), a human IgG1 antibody Fc fragment engineered to reduce pathogenic IgG autoantibody levels, in patients with generalized myasthenia gravis.

TL;DR: The identification of new mutations expands the array of SETX variants, and the finding of a missense change outside the helicase domain suggests the existence of at least one more functional region in the N-terminus of senataxin.

TL;DR: Three functional measures and their composite SCAFI have favorable properties to assess patients with spinocerebellar ataxia.