Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.
Friedreich ataxia (FRDA) is a neurodegenerative disease caused by mutations in the frataxin (FXN) gene, resulting in reduced expression of the mitochondrial protein frataxin. Improved understanding of the pathophysiology of the disease has led to a growing need for informative biomarkers to assess disease progression and response to therapeutic intervention. ⋯ Frataxin measurements from peripheral tissues can be used to identify FRDA patients and carriers. While multiple cell types and assays may be useful for diagnostic purposes, each assay and cell type used has its advantages and disadvantages depending on study design and scope.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Practice GuidelineConsensus on guidelines for stereotactic neurosurgery for psychiatric disorders.
For patients with psychiatric illnesses remaining refractory to 'standard' therapies, neurosurgical procedures may be considered. Guidelines for safe and ethical conduct of such procedures have previously and independently been proposed by various local and regional expert groups. ⋯ This consensus document on ethical and scientific conduct of psychiatric surgery worldwide is designed to enhance patient safety.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Rest and other types of tremor in adult-onset primary dystonia.
Knowledge regarding tremor prevalence and phenomenology in patients with adult-onset primary dystonia is limited. Dystonic tremor is presumably under-reported, and we aimed to assess the prevalence and the clinical correlates of tremor in patients with adult-onset primary dystonia. ⋯ Here we show that tremor is a common feature of patients with adult-onset primary dystonia. It may involve different body segments, with the head being the most commonly affected site. Arm tremor is also frequent (postural>kinetic>rest), occurring in up to one-third of cases. There is a suggestion of a stronger tendency for spread of dystonic features in patients with associated tremor. Dystonic tremor is under-reported and this underscores the importance of careful clinical examination when assessing tremulous patients without overt dystonia.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Meta Analysis Comparative StudyWhich target is best for patients with Parkinson's disease? A meta-analysis of pallidal and subthalamic stimulation.
There is a growing body of evidence demonstrating that deep brain stimulation (DBS) of globus pallidus internus (GPi DBS) and subthalamic nucleus (STN DBS) are effective treatment for patients with Parkinson's disease (PD). However, it remains controversial whether the best stimulation target for a PD patient is GPi or STN. ⋯ The effect of GPi DBS was similar to STN DBS except for depression, however, only three studies described depression as adverse events. We need additional randomised trials with direct comparison between targets based on unified scoring of adverse events.