Lancet neurology
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Why is peripheral neuropathy common but mild in many mitochondrial disorders, and why is it, in some cases, the predominant or only manifestation? Although this question remains largely unanswered, recent advances in cellular and molecular biology have begun to clarify the importance of mitochondrial functioning and distribution in the peripheral nerve. Mutations in proteins involved in mitochondrial dynamics (ie, fusion and fission) frequently result in a Charcot-Marie-Tooth phenotype. ⋯ Early diagnosis of mitochondrial disorders, essential to provide appropriate genetic counselling, has become crucial in a few treatable conditions. Recognising and diagnosing an underlying mitochondrial defect in patients presenting with peripheral neuropathy is therefore of paramount importance.
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Review Meta Analysis
Subthalamic neurostimulation for Parkinson's disease with early fluctuations: balancing the risks and benefits.
Electrical stimulation of the subthalamic nucleus is an established treatment for patients with advanced Parkinson's disease with pharmacologically unresponsive fluctuations. Compared with pharmacological treatment, subthalamic neurostimulation significantly improves motor symptoms, particularly during the phases of poor response to drug treatment, and reduces the severity of dyskinesias. Importantly, it also significantly improves quality of life and other integral measures of disease severity. ⋯ In a recent study (EARLYSTIM) in patients with a disease duration of 7·5 years and fluctuations for 1·5 years, similar improvements in clinical outcomes were reported. These findings suggest that neurostimulation of the subthalamic nucleus could be used earlier in the disease course for carefully selected patients if the benefits of the treatment are weighed against the surgical risks and the lifelong need for specialised care by an experienced team. As mobility is consistently improved during the times with poor mobility by reducing fluctuations and delaying levodopa-sensitive complications, we propose that this treatment changes the disease course.
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A fifth of all strokes and transient ischaemic attacks occur in the posterior circulation arterial territory. Diagnosis can be challenging, in part because of substantial overlap in symptoms and signs with ischaemia in the anterior circulation. Improved methods of non-invasive imaging of the vertebrobasilar arterial tree have been used in recent prospective follow-up studies, which have shown a high risk of early recurrent stroke, particularly when there is associated vertebrobasilar stenosis. This finding emphasises the importance of urgent secondary prevention, and the role of stenting for vertebral stenosis is being investigated.
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Tuberculous meningitis is especially common in young children and people with untreated HIV infection, and it kills or disables roughly half of everyone affected. Childhood disease can be prevented by vaccination and by giving prophylactic isoniazid to children exposed to infectious adults, although improvements in worldwide tuberculosis control would lead to more effective prevention. ⋯ However, these advances are insufficient in the face of drug-resistant tuberculosis and HIV co-infection. Many questions remain about the best approaches to prevent, diagnose, and treat tuberculous meningitis, and there are still too few answers.