Current opinion in neurology
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Congenital myasthenic syndromes are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent advances in the clinical, genetic and molecular aspects of congenital myasthenic syndrome are outlined. ⋯ The characterization of congenital myasthenic syndromes comprises two complementary steps: establishing the diagnosis and identifying the pathophysiological type of congenital myasthenic syndrome. Characterization of the type of congenital myasthenic syndrome has allowed it to be classified as caused by presynaptic, synaptic and postsynaptic defects. A clinically and muscle histopathologically oriented genetic study has identified several genes in which mutations cause the disease. Despite comprehensive characterization, the phenotypic expression of one given gene involved is variable, and the aetiology of many congenital myasthenic syndromes remains to be discovered.
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This review summarizes recent advances in endovascular therapy for cerebrovascular disease. ⋯ Advances in endovascular therapy have occurred in all areas of cerebrovascular disease. To obtain maximal patient benefit, endovascular treatment should be performed as an interdisciplinary approach in high-volume centers. Importantly, long-term follow-up review is necessary to clarify the overall role of endovascular treatment in the management of cerebrovascular disease.
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Since the initial description of cortical spreading depression by Leao, evidence that cortical spreading depression is the underlying pathomechanism of migraine aura has increased. The purpose of this review is to describe the ultimate genetic and molecular mechanisms of migraine aura. ⋯ Recent studies have helped unravel the basic mechanisms involved in migraine aura. Far from being a simple phenomenon, a sequence of events leads from the cortex to the activation of pain-sensitive structures. The role of the brainstem is still poorly described. The identification of target molecules may provide new therapies.
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The progress in headache genetics, especially migraine genetics, recently jumped ahead with some major discoveries. ⋯ The findings in familial hemiplegic migraine confirm that dysfunction in ion transport is a key factor in migraine pathophysiology and might help us in the elucidation of migraine molecular pathways. The identification of several migraine susceptibility loci underline its genetically complex nature.