0000000000483007
AUTHOR
François Salachas
ATXN2 trinucleotide repeat length correlates with risk of ALS
We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carry…
Non-invasive ventilation effectiveness and the effect of ventilatory mode on survival in ALS patients.
Non-invasive ventilation (NIV) prolongs survival in amyotrophic lateral sclerosis (ALS), but there are no data with which to compare the effectiveness of the different ventilator modes – volume (Vol-NIV) or pressure-cycled (Pres-NIV) ventilation – in ALS. We aimed to determine whether the ventilatory mode has an effect on ventilation effectiveness and survival of ALS patients using NIV. We used a retrospective study that included all ALS patients for whom NIV was indicated in two referral units: one using Vol-NIV and the other using Pres-NIV. Demographic, functional and nocturnal gas exchange parameters at NIV initiation were recorded. Eighty-two ALS patients ventilated using Pres-NIV and 6…