Michelle M. Mezei

TL;DR: Patisiran improved multiple clinical manifestations of hereditary transthyretin amyloidosis with polyneuropathy and showed an effect on gait speed and modified BMI.

TL;DR: The genetic data provide insights into aberrant cellular mechanisms responsible for this prototypical autoimmune disorder and suggest that clinical trials of immunomodulatory drugs related to CTLA4 and that are already Food and Drug Administration approved as therapies for other autoimmune diseases could be considered for patients with refractory disease.

TL;DR: The genetic studies identified mutations in B4GALNT1 (GM2 synthase), encoding the enzyme that catalyzes the second step in complex ganglioside biosynthesis, as the cause of this neurodegenerative phenotype, and confirmed a lack of GM2 in affected subjects in association with a predictable increase in levels of its precursor, GM3, a finding that will greatly facilitate diagnosis of this condition.

TL;DR: Five patients had ataxia, neuropathy, myopathy, and progressive external ophthalmoplegia, and the muscle pathology revealed ragged-red and cytochrome c oxidase (COX) negative fibers in three patients, but deficiencies in the activities of mitochondrial respiratory chain enzyme complexes were not detected in any of the patients' muscle samples.

TL;DR: The phenotypic variability between SOD1 mutation carrying patients in this study is dramatic, even among patients with the same mutation, underlines the hypothesis that ALS is a biologically heterogeneous disorder in which genetics, environment and ageing all interrelate to form the final clinical phenotype.