Antonella Antenora

TL;DR: This study provides quantitative data on the progression of the most common spinocerebellar ataxias based on a follow-up period that exceeds those of previous studies and could prove useful for sample size calculation and patient stratification in interventional trials.

TL;DR: Preclinical SCA1 and SCA2 mutation carriers seem to have mild coordination deficits and abnormalities in the brain that are more common in carriers who are closer to the estimated onset of ataxia.

TL;DR: The mutational and phenotypic spectrum of SPG5 is defined, the correlation of disease severity and progression with oxysterol concentrations is examined, and in a randomized controlled trial that atorvastatin treatment can effectively lower 27-hydroxycholesterol levels in serum of SPg5 patients is demonstrated, demonstrating the first causal treatment strategy in hereditary spastic paraplegia.

TL;DR: The results have implications for the design of future interventional studies of spinocerebellar ataxias; for example, the prognostic survival nomogram could be useful for selection and stratification of patients.

TL;DR: This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings, and its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP.