Lancet neurology
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A large and complex gene on the X chromosome encodes dystrophin. Many mutations have been described in this gene, most of which affect the expression of the muscle isoform, the best-known protein product of this locus. These mutations result in the Duchenne and Becker muscular dystrophies (DMD and BMD). ⋯ Rare mutations also account for the allelic disorder X-linked dilated cardiomyopathy, in which dystrophin expression or function is affected mostly or exclusively in the heart. Genotype definition of the dystrophin gene in patients with dystrophinopathies has taught us much about functionally important domains of the protein itself and has provided insights into several regulatory mechanisms governing the gene expression profile. Here, we focus on current understanding of the genotype-phenotype relation for mutations in the dystrophin gene and their implications for gene functions.
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Review
Cognitive impairment during epileptiform discharges: is it ever justifiable to treat the EEG?
Epileptiform EEG discharges are not confined to people with epilepsy, and their frequency is only weakly related to severity. A fundamental principle of EEG practice is, therefore, to avoid overinterpretation of epileptiform activity. Epileptiform discharges not accompanied by obvious clinical events are generally regarded as subclinical or interictal. ⋯ In children it may be associated with behavioural disorders. An important practical issue is whether TCI materially impairs psychosocial function and, if so, whether drug treatment is desirable or effective. Uncontrolled reports and two preliminary randomised controlled trials of antiepileptic treatment of TCI have suggested that suppression of discharges is associated with significant improvement in psychosocial function.
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Human prion diseases are devastating and incurable, but are very rare. Fears that the bovine spongiform encephalopathy epizootic would lead to a large epidemic of its presumed human counterpart, variant Creutzfeldt-Jakob disease (vCJD), have not been realised. Yet a feeling of uncertainty prevails in the general public and in the biomedical world. ⋯ In addition to this problem, Switzerland is currently faced with another issue of major public concern: a recent rise in the incidence of CJD. Here we examine the plausibility of several scenarios that may account for the increase in CJD incidence, including ascertainment bias due to improved reporting of CJD, iatrogenic transmission, and transmission of a prion zoonosis. In addition, we present the design and current status of a Swiss population-wide study of subclinical vCJD prevalence.