Current opinion in neurology
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Curr. Opin. Neurol. · Oct 2009
ReviewEmerging genetic therapies to treat Duchenne muscular dystrophy.
Duchenne muscular dystrophy is a progressive muscle degenerative disease caused by dystrophin mutations. The purpose of this review is to highlight two emerging therapies designed to repair the primary genetic defect, called 'exon skipping' and 'nonsense codon suppression'. ⋯ These novel therapies that act to correct the primary genetic defect of dystrophin deficiency are among the first generation of therapies tailored to correct specific mutations in humans. Thus, they represent paradigm forming approaches to personalized medicine with the potential to lead to life changing treatment for those affected by Duchenne muscular dystrophy.
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The term 'cerebellar ataxias' encompasses the various cerebellar disorders encountered during daily practice. Patients exhibit a cerebellar syndrome and can also present with pigmentary retinopathy, extrapyramidal movement disorders, pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioural symptoms), and peripheral neuropathy. The clinical diagnosis of subtypes of ataxias is complicated by the salient overlap of the phenotypes between genetic subtypes. The identification of the causative mutations of many hereditary ataxias and the development of relevant animal models bring hope for effective therapies in neurodegenerative ataxias. ⋯ Recent molecular advances have direct implications for research and daily practice. We provide a framework for the diagnosis of ataxias. For the first time, the therapeutic agents under investigation are targeted to deleterious pathways.
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Septic encephalopathy is a frequent complication in severe sepsis, the pathogenesis and mechanisms of which are not fully understood. Here, we review recent advances in our understanding of septic encephalopathy, from molecular mechanisms to behavioral alterations, from diagnostic tools to potential therapeutic agents. ⋯ Septic encephalopathy is a dynamic disease caused by a complex network of systems and pathways going awry. More insights into the pathogenesis of septic encephalopathy are expected to lead to new cellular and molecular targets, which in turn will permit design of specific septic encephalopathy-alleviating drugs and prevent its negative influence on survival.
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Curr. Opin. Neurol. · Jun 2009
ReviewNeuroimaging in trigeminal autonomic cephalgias: when, how, and of what?
Trigeminal autonomic cephalgias (TACs) are characterized by frequent, short-lasting headache attacks with ipsilateral facial autonomic features. They include cluster headache, paroxysmal hemicrania, and short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing. The pathogenesis of TACs is largely unknown, but many case reports in the literature suggest that TACs are secondary to structural lesions. Thus, the question arises whether TAC patients should undergo neuroimaging. Here, we review the recent literature on secondary TACs and attempt to formulate guidelines for neuroimaging. ⋯ Even clinically typical TACs can be caused by structural lesions. There are no 'typical' warning signs or symptoms. Neuroimaging should be considered in all patients with TAC or TAC-like syndromes, notably in those with atypical presentation. Depending on the degree of suspicion, additional imaging should be considered assessing intracranial and cervical vasculature, and the sellar and paranasal region.
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Conventional management options in medically intractable chronic-headache syndromes, such as chronic migraine, chronic cluster headache and hemicrania continua, are often limited. This review summarizes the current concepts, approaches and outcome data of invasive device-based neurostimulation approaches using occipital-nerve stimulation and deep-brain stimulation. ⋯ These findings will help to further elucidate the clinical potential of neurostimulation in chronic headache.