Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Apr 2015
ReviewWhat to see when you are looking at confusion: a review of the neuroimaging of acute encephalopathy.
Acute encephalopathy is a clinical conundrum in neurocritical care facing physicians with diagnostic and therapeutic challenges. Encephalopathy arises from several concurrent causes, and delayed diagnosis adds to its grim prognosis. Diagnosis is reached by melding clinical, neurophysiological and biochemical features with various neuroimaging studies. ⋯ MRS may provide supplementary biochemical information and determines spectral changes in the affected brain tissue. The less frequently used PET and SPECT may delineate areas of high or low metabolic activity or cerebral blood flow. However, publications of MRS, PET and SPECT are limited only providing anecdotal evidence of their usefulness and sensitivity.
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GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities, UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase, in sialic acid biosynthetic pathway. The diagnosis should be considered primarily in patients presenting with distal weakness (foot drop) in early adulthood (other onset symptoms are possible too). The disease slowly progresses to involve other lower and upper extremities' muscles, with marked sparing of the quadriceps. ⋯ Note that we use a new mutation nomenclature based on the longest transcript (GenBank: NM_001128227), which encodes a 31-amino acid longer protein than the originally described one (GenBank: NM_005476), which has been used previously in most papers. Based upon the pathophysiology of the disease, recent clinical trials as well as early gene therapy trials have evaluated the use of sialic acid or N-acetylmannosamine (a precursor of sialic acid) in patients with GNE myopathy. Now that therapies are under investigation, it is critical that a timely and accurate diagnosis is made in patients with GNE myopathy.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2015
Effect of subthalamic nucleus deep brain stimulation on dual-task cognitive and motor performance in isolated dystonia.
Subthalamic nucleus (STN) deep brain stimulation (DBS) can improve motor complications of Parkinson's disease (PD) but may worsen specific cognitive functions. The effect of STN DBS on cognitive function in dystonia patients is less clear. Previous reports indicate that bilateral STN stimulation in patients with PD amplifies the decrement in cognitive-motor dual-task performance seen when moving from a single-task to dual-task paradigm. We aimed to determine if the effect of bilateral STN DBS on dual-task performance in isolated patients with dystonia, who have less cognitive impairment and no dementia, is similar to that seen in PD. ⋯ This study suggests the effect of STN DBS on working memory and attention may be much less consequential in patients with dystonia than has been reported in PD.