8 research outputs found
COVID-19 in Africa:Contextualizing impacts, responses, and prospects
It has become a truism that COVID-19 has impacted all countries and all people around the world, but in different ways. Yet this contextual diversity in the pandemicâs impacts, the responses by governments and other actors, and the prospects for recovery are only beginning to be understood. This is especially so for Africa, where, on the whole, the pandemic had a late start compared to other regions, but where the complex interactions among the disease, local health systems, and preexisting vulnerabilities linked to poverty, inequality, and fragile governance make such understanding particularly important. âAfrica could become the next epicenter of the COVID-19 pandemic,â though thankfully the rate of infections has slowed in most parts of the continent in August and September. Yet the risk of a second wave of infections remains high, and in any case, the effects of the global recession and of governmentsâ lockdown regulations are layered upon a context of widespread poverty and constrained states, resulting in severe humanitarian, economic, and social impacts, with long-term implications for sustainable development on the continent. Setbacks to Africaâs sustainable development agenda have global implications, and this is true for the pandemic also. As argued by the United Nations Secretary General, âOnly victory in Africa can end the pandemic everywhere
A Recurrent Mutation in KCNA2 as a Novel Cause of Hereditary Spastic Paraplegia and Ataxia
The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with over 50 known causative genes. We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H), encoding the voltage-gated K+-channel, K(V)1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia. Follow-up analysis of >2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. Two-electrode voltage-clamp recordings of Xenopus laevis oocytes expressing mutant KV1.2 channels showed loss of function with a dominant-negative effect. Our findings highlight the phenotypic spectrum of a recurrent KCNA2 mutation, implicating ion channel dysfunction as a novel HSP disease mechanism.Peer reviewe