Current Issue : October - December Volume : 2015 Issue Number : 4 Articles : 7 Articles
Background: The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis\n(NCL), are well established according to the neurological features of the cases reported with mutations in CTSF.\nThe neuroradiological characteristics of this uncommon disease have not yet been outlined.\nCase presentation: We hereby report the brain MRI features in two Caucasian women who carried homozygous\nmutations in CTSF, providing a short review of the neuroradiological findings of other common NCLs.\nTogether with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the\ncorpus callosum at onset of the cognitive decline.\nConclusion: White matter hyperintensities associated with volume reduction of the corpus callosum may be\npresent at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations\nin CTSF...
Background: SLC10A4 belongs to the solute carrier family SLC10 whose founding members are the Na+/taurocholate\nco-transporting polypeptide (NTCP, SLC10A1) and the apical sodium-dependent bile acid transporter (ASBT,\nSLC10A2). These carriers maintain the enterohepatic circulation of bile acids between the liver and the gut. SLC10A4\nwas identified as a novel member of the SLC10 carrier family with the highest phylogenetic relationship to NTCP. The\nSLC10A4 protein was detected in synaptic vesicles of cholinergic and monoaminergic neurons of the peripheral and\ncentral nervous system, suggesting a transport function for any kind of neurotransmitter. Therefore, in the present\nstudy, we performed systematic transport screenings for SLC10A4 and also aimed to identify the vesicular sorting\ndomain of the SLC10A4 protein.\nResults: We detected a vesicle-like expression pattern of the SLC10A4 protein in the neuronal cell lines SH-SY5Y and\nCAD. Differentiation of these cells to the neuronal phenotype altered neither SLC10A4 gene expression nor its vesicular\nexpression pattern. Functional transport studies with different neurotransmitters, bile acids and steroid sulfates\nwere performed in SLC10A4-transfected HEK293 cells, SLC10A4-transfected CAD cells and in Xenopus laevis oocytes.\nFor these studies, transport by the dopamine transporter DAT, the serotonin transporter SERT, the choline transporter\nCHT1, the vesicular monoamine transporter VMAT2, the organic cation transporter Oct1, and NTCP were used as positive\ncontrol. SLC10A4 failed to show transport activity for dopamine, serotonin, norepinephrine, histamine, acetylcholine,\ncholine, acetate, aspartate, glutamate, gamma-aminobutyric acid, pregnenolone sulfate, dehydroepiandrosterone\nsulfate, estrone-3-sulfate, and adenosine triphosphate, at least in the transport assays used. When the C-terminus\nof SLC10A4 was replaced by the homologous sequence of NTCP, the SLC10A4-NTCP chimeric protein revealed clear\nplasma membrane expression in CAD and HEK293 cells. But this chimera also did not show any transport activity,\neven when the N-terminal domain of SLC10A4 was deleted by mutagenesis.\nConclusions: Although different kinds of assays were used to screen for transport function, SLC10A4 failed to show\ntransport activity for a series of neurotransmitters and neuromodulators, indicating that SLC10A4 does not seem to\nrepresent a typical neurotransmitter transporter such as DAT, SERT, CHT1 or VMAT2....
It has been shown that memorized information\ncan influence real-time visuomotor control. For instance, a\npreviously seen object (prime) influences grasping movements\ntoward a target object. In this study, we examined\nhow general the priming effect is: does it depend on the orientation\nof the target object and the similarity between the\nprime and the target? To do so, we examined whether priming\neffects occured for different orientations of the prime\nand the target objects and for primes that were either identical\nto the target object or only half of the target object.\nWe found that for orientations of the target object that did\nnot require an awkward grasp, the orientation of the prime\ncould influence the initiation time and the final grip orientation.\nThe priming effects on initiation time were only found\nwhen the whole target object was presented as prime, but\nnot when only half of the target object was presented. The\nresults suggest that a memory effect on real-time control is\nconstrained by end-state comfort and by the relevance of\nthe prime for the grasping movement, which might mean\nthat the interactions between the ventral and dorsal pathways\nare task specific....
In laboratory studies, counting the spinal motoneurons\nthat survived axonal injury is a major method to estimate\nthe severity and regenerative capacity of the injured motoneurons\nafter the axonal injury and rehabilitation surgery. However,\nthe typical motoneuron marker, the choline acetyltransferase\n(ChAT), could not be detected in the injured motoneurons\nwithin the first 3ââ?¬â??4 weeks postinjury. It is necessary to\nexplore the useful and reliable specific phenotypic markers to\nassess the fate of injured motoneurons in axonal injury. Here,\nwe used the fluorogold to retrograde trace the injured motoneurons\nin the spinal cord and studied the expression patterns\nof the alpha-motoneuron marker, the neuronal nuclei DNAbinding\nprotein (NeuN) and the peripheral nerve injury marker,\nthe activating transcriptional factor (ATF-3), and the oxidative\nstress marker, the neuronal nitric oxide synthase\n(nNOS) within the first 4 weeks of the root avulsion of the\nright brachial plexus (BPRA) in the adult male Sprague-\nDawley rats. Our results showed that ATF-3 was rapidly\ninduced and sustained to express only in the nuclei of the\nfluorogold-labeled injured motoneurons but none in the unaffected\nmotoneurons from the 24 h of the injury; meanwhile,\nthe NeuN almost disappeared in the avulsion-affected motoneurons\nwithin the first 4 weeks. The nNOS was not detected\nin the motoneurons until the second week of the injury. On the\nbasis of the present data, we suggest that ATF-3 labels\navulsion-injured motoneurons while NeuN and nNOS are\npoor markers within the first 4 weeks of BPRA....
In order to determine the influence of perceptual\ninput upon oculomotor responses, we examined rapid\nsaccadic eye movements made by healthy human observers\nto a virtual target defined by the extrapolated intersection\nof a pointer with a distant landing line. While corresponding\nperceptual judgments showed no evidence of systematic\nbias, eye movements showed a strong bias, in the direction\nof assimilation of the saccade trajectory to the shortest\npath between the end of the pointer and the landing line.\nAdding an abutting vertical inducing line to make an angle\nof 45 deg with the pointer led to a larger bias in the same\ndirection as the classical Poggendorff illusion. This additional\nPoggendorff effect was similar in direction and magnitude\nfor the eye movements and the perceptual responses.\nLatency and dynamics of the eye movements were closely\nsimilar to those recorded for a control task in which observers\nmade a saccade from the start fixation to an explicit target\non the landing line. Further experiments with inducing\nlines presented briefly at various times during the saccade\nlatency period showed that the magnitude of the saccade\nbias was affected by inducer presentation during the saccade\nplanning process, but not during the saccade itself.\nWe conclude that the neural mechanisms for extrapolation\ncan feed into the control of eye movements without obvious\npenalties in timing and accuracy and that this information\ncan instantaneously modify motor response throughout\nthe planning phase, suggesting close association between perceptual and motor mechanisms in the process of visuospatial\nextrapolation....
Background: Aspiration pneumonia is an important cause of morbidity and mortality in Parkinson�s disease (PD).\nClinical characteristics of PD patients in addition to specific alterations in swallowing mechanisms contribute to\nhigher swallowing times and impairment in the effective clearance of the airway. These issues may render patients\nmore prone to dysphagia and aspiration events. We aimed to determine the frequency of aspiration events in a\nhospitalized PD cohort, and to report the number of in-hospital swallow evaluations.\nMethods: A retrospective single center chart review of 212 PD patients who had 339 hospital encounters was\nperformed from January 2011 to March 2013. Demographics, clinical characteristics, and reasons for encounters\nwere documented. The number of in-hospital aspiration events and the number of swallowing evaluations and\nalso the implementation of aspiration precautions were recorded.\nResults: The cohort had a mean age of 74.1 (SD = 10.1) years with mean disease duration of 6 (SD = 6.3) years.\nFifty-two hospital encounters (15.3 %) were related to a pulmonary cause. In-hospital aspiration pneumonia events\nwere reported in 8 (2.4 %) of the total encounters. Swallow evaluations were performed in 25 % of all cases, and\naspiration precautions were initiated in 32 % of the encounters. The data revealed that 1/8 patient had swallowing\nevaluations performed prior to an aspiration event.\nConclusions: In-hospital aspiration pneumonia events were reported in 2.4 % of the hospitalized PD cohort. Preventive\nmeasures and precautions were not routinely performed, however rates of aspiration were relatively low. The results\nhighlight the need for more research into screening and monitoring of swallowing problems in PD patients during\nhospital encounters...
Background: Systemic infections can influence the course of multiple sclerosis (MS), especially by driving recurrent\nacute episodes. The question whether the infection enhances tissue damage is of great clinical importance and cannot\neasily be assessed in clinical trials. Here, we investigated the effects of a systemic infection with Escherichia coli, a\nGram-negative bacterium frequently causing urinary tract infections, on the clinical course as well as on neurodegeneration\nin experimental autoimmune encephalomyelitis (EAE), an animal model of MS.\nMethods: Rats were immunized with myelin oligodendrocyte glycoprotein (MOG1ââ?¬â??125) and challenged intraperitoneally\nwith live E. coli K1 in the preclinical or in the clinical phase of the disease. To ensure the survival of animals,\nantibiotic treatment with ceftriaxone was initiated 36 h after the infection and continued for 3 consecutive days.\nResults: Systemic infection with E. coli did not influence the onset of clinical EAE symptoms or disease severity.\nAnalysis of the optic nerve and retinal ganglion cells revealed no significant changes in the extent of inflammatory\ninfiltrates, demyelination and neurodegeneration after E. coli infection.\nConclusions: We could not confirm the detrimental effect of lipopolysaccharide-induced systemic inflammation, a\nmodel frequently used to mimic the bacterial infection, previously observed in animal models of MS. Our results indicate\nthat the effect of an acute E. coli infection on the course of MS is less pronounced than suspected and underline\nthe need for adequate models to test the role of systemic infections in the pathogenesis of MS....
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