Paula Magalhães

TL;DR: It is proposed that three mechanisms, occurring at different times, may lead to the evolution from normal CAGs to full expansion: first, a mutation bias towards larger alleles; then, a stepwise process that could explain the CAG distributions observed in the more recent haplotypes; and, finally, a pool of intermediate (class 2) alleles more prone to give rise to expanded HD alleles.

TL;DR: In this paper, the Skylark Alauda arvensis had the highest overall mortality in ten Northern Portuguese wind farms surveyed between 2006 and 2011, with a sex and age biased mortality affecting mainly adult males (90.9%), which may be related to their characteristic breeding male song-flights making them highly vulnerable to collision with wind turbines.

TL;DR: The genetic analysis of 107 Portuguese patients with an HDL phenotype found none of the genes already included in the differential diagnosis of HD was responsible for the disease in this sample, so the genetic heterogeneity of the HDL phenotype is still open for investigation.

TL;DR: Cases posing particular problems for genetic counselling, such as, ’homozygosity’ that can pose a serious ethical dilemma, carriers of large normal alleles, and ‘homoallelism’ for a normal gene, are identified, which will demand further procedures and may delay results in presymptomatic and prenatal testing.

TL;DR: To genetically diagnose the Portuguese families with HSP, mutation analysis was performed for the SPG4 and SPG3A genes.