Journal of the neurological sciences
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Comparative Study
Cırcadian changes in cortical excitability in restless legs syndrome.
Various investigations have revealed a widespread and somewhat controversial pattern of cerebral, cerebellar and brainstem involvement in the pathophysiology of restless legs syndrome (RLS). However, several studies which investigated functional or structural aspects indicated cortical involvement in RLS. In this study, we aimed to analyze circadian changes of cortical excitability in idiopathic RLS patients by means of transcranial magnetic stimulation (TMS). ⋯ At night, cortical silent periods tended to shorten, and motor thresholds tended to decrease in the RLS group, whereas in controls they tended to increase. At night, active motor-threshold measurements were significantly lower in the RLS group (28.5 ± 6.2% vs 40.4 ± 8.4%, p=0.006). Therefore, we propose that in patients with RLS, conduction along the motor corticospinal axons is normal, with the possible loss of subcortical inhibition at nighttime.
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Case Reports
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.
Congenital myasthenic syndromes (CMS) are rare genetic disorders characterized by impaired neuromuscular transmission. They are caused by mutations in synaptic, presynaptic and post synaptic proteins. ⋯ We describe a Persian Jewish family with two siblings affected with typical CMS, harboring the common heterozygous (-38A-G) E-box mutation associated with a previously unreported heterozygous p.224 insT causing an insertion of Threonine in the TPR6 domain. To the best of our knowledge, this is the first mutation in the TPR6 domain and might give supportive evidence to the role of this domain in rapsyn self association and consequently co-clustering with AchR in the post synaptic membrane.
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Comparative Study
Arrival by ambulance is associated with acute stroke intervention in young adults.
Timely intervention in young stroke patients minimizes long term disability. We hypothesized that arrival to the emergency department by ambulance would be associated with increased rate of stroke intervention with intravenous t-PA or intra arterial procedures. ⋯ Young adults with stroke symptoms were more likely to receive acute stroke intervention if they arrived by ambulance. Larger multi-center studies should address whether Primary Stroke Centers are more likely to provide either IV thrombolysis or interventional therapies in young patients with acute ischemic stroke.
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Comparative Study
Increased expressions of TLR2 and TLR4 on peripheral blood mononuclear cells from patients with Alzheimer's disease.
Toll-like receptors 2 (TLR2) and TLR4 are involved in the microglia-mediated inflammatory response, Aβ plaque formation and Aβ clearance in Alzheimer's disease (AD). Our previous studies have shown that variants in the TLR2 and TLR4 genes are associated with the risk of AD. Therefore, we hypothesize that there may be significant changes in TLR2 and TLR4 expressions on peripheral blood mononuclear cells (PBMCs) from patients with AD when compared to healthy control subjects. ⋯ This study gives the first evidence that expressions of TLR2 and TLR4 in PBMCs were markedly elevated in LOAD patients.
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Comparative Study
Correlation of subthalamic nuclei T2 relaxation times with neuropsychological symptoms in patients with Parkinson's disease.
The subthalamic nucleus (STN) is a frequent target of deep brain stimulation (DBS), which is used to treat patients with advanced Parkinson's disease (PD). However, few studies have assessed the relationship between the STN and the clinical characteristics of PD patients. We identified the STN of 17 PD patients and 7 control subjects using coronal Short TI Inversion Recovery (STIR) magnetic resonance imaging (MRI) and estimated the T2 relaxation time (T2) of the STN on the subsequent coronal images that were acquired from T2-weighted MRI. ⋯ STN T2 measurements were significantly and inversely correlated (p=0.03) with scores on the Unified Parkinson's Disease Rating Scale (UPDRS) part 1, which was applied to evaluate the mentation, behavior, and mood of PD patients. However, no significant correlations were found between the STN T2 measurements and the patients' age, disease duration, laterality, or motor clinical scores. These results suggest that degeneration of the STN in PD patients may contribute to their neuropsychological symptoms.