Lancet neurology
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Comparative Study
Prevalence of active convulsive epilepsy in sub-Saharan Africa and associated risk factors: cross-sectional and case-control studies.
The prevalence of epilepsy in sub-Saharan Africa seems to be higher than in other parts of the world, but estimates vary substantially for unknown reasons. We assessed the prevalence and risk factors of active convulsive epilepsy across five centres in this region. ⋯ The prevalence of active convulsive epilepsy varies in sub-Saharan Africa and that the variation is probably a result of differences in risk factors. Programmes to control parasitic diseases and interventions to improve antenatal and perinatal care could substantially reduce the prevalence of epilepsy in this region.
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Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS) cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial proportion of the remainder of cases of familial ALS have now been traced to an expansion of the intronic hexanucleotide repeat sequence in C9orf72. This breakthrough provides an opportunity to re-evaluate longstanding concepts regarding the cause and natural history of ALS, coming soon after the pathological unification of ALS with frontotemporal dementia through a shared pathological signature of cytoplasmic inclusions of the ubiquitinated protein TDP-43. ⋯ Identification of C9orf72 repeat expansions in patients without a family history of ALS challenges the traditional division between familial and sporadic disease. By contrast, the 90% of apparently sporadic cases and incomplete penetrance of several genes linked to familial cases suggest that at least some forms of ALS arise from the interplay of multiple genes, poorly understood developmental, environmental, and age-related factors, as well as stochastic events.
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Peripheral nerve disorders are associated with all stages of HIV infection. Distal sensory polyneuropathy is characterised by often-disabling pain that is difficult to treat. It is prevalent in both high-income and low-income settings. ⋯ Sensorimotor polyneuropathies and polyradiculopathies are less frequent than distal sensory polyneuropathy, but still occur in low-income settings and have potentially devastating consequences. However, many of these diseases can be treated successfully with a combination of antiretroviral and immune-modulating therapies. To distinguish between peripheral nerve disorders that have diverse, overlapping, and frequently atypical presentations can be challenging; a framework based on a clinicoanatomical approach might assist in the diagnosis and management of such disorders.