Manuela Lima

TL;DR: This work tested whether the modifying effects of variants in DNA repair genes have wider effects in the polyglutamine diseases, including Huntington's disease and multiple spinocerebellar ataxias.

TL;DR: Machado-Joseph Disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset, involving predominantly the cerebellar, pyramidal, extrapyramidal and motor neuron and oculomotor systems; although sharing features with other SCAs, the identification of minor, but more specific signs, facilitates its differential diagnosis as discussed by the authors.

TL;DR: The findings suggest two introductions of the mutation into the Portuguese population through linkage-disequilibrium analysis of tightly linked polymorphisms and by haplotype comparison, in 249 families from different countries.

TL;DR: The results indicate that the discrepancy between the human mtDNA mutation rates observed along evolutionary timescales and the estimations obtained using family pedigrees can be minimized when corrections for gender proportions in newborn individuals and for the probability of intraindividual fixation are introduced.

TL;DR: The revision of the available data raises concerns on the ability of mouse models to mimic the mtDNA damage patterns of humans, a fact with implications not only for the study of the aging process, but also for investigations of other processes in which mtDNA dysfunction is a hallmark, such as neurodegeneration.