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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Ischemic lesion growth may be a surrogate marker of clinical outcome, but no such interrelationship after thrombolysis has yet been determined. We evaluated the association between early infarct growth on diffusion-weighted imaging (DWI) and long-term clinical outcome after thrombolysis. ⋯ Early DWI lesion growth is an independent predictor of poor outcome after thrombolysis and may serve a potential surrogate marker of clinical outcome in acute stroke trials.
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Recent studies suggest that the Montreal Cognitive Assessment (MoCA) is more sensitive to stroke-associated cognitive dysfunction than the Mini-Mental State Examination (MMSE), but little is known about how these screening measures relate to neurocognitive test performance or real-world functioning in patients with good recovery after aneurysmal subarachnoid hemorrhage (aSAH). The aim of the present study was to determine how MoCA and MMSE scores relate to neurocognitive impairment and return to work after aSAH. ⋯ Compared to the MMSE, the MoCA is more sensitive to aSAH-associated cognitive impairment. Certain MoCA subtests are also sensitive to functional difficulties after aSAH such as return to work. These findings support the utility of the MoCA as a brief bedside assessment of cognitive and real-world outcome in aSAH survivors.