Journal of the neurological sciences
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The CACNA1A gene codes for the alpha(1A) pore-forming subunit of Ca(2+) voltage-gated Cav2.1 channels. CACNA1A mutations are responsible for Familial Hemiplegic Migraine (FHM) type 1, Episodic Ataxia (EA) type 2 and Spinocerebellar Ataxia type 6. The structure of the human gene includes, at present, 49 exons; however almost nothing is known about the 5' regulatory region, and there is now evidence suggesting the presence of additional exons at the 3' of the gene. ⋯ At the 3' end of the gene a new exon 48, followed by a strong poly-A signal, was identified as well as a new splice variant. The 5 bp insertion (g.38429_38430insCTTTT) in this exon was found in an EA patient. The two new regions can open the way for the study of human CACNA1A gene expression regulation and can be sites of mutations associated with FHM or EA phenotypes.
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The co-occurrence of myasthenia gravis (MG) and Guillain Barré syndrome (GBS) is uncommon with a few reported cases in the literature. There is only one reported case of MG and Miller Fisher variant of GBS. ⋯ She was proved to have co-occurrence of MG and GBS/Miller Fisher overlap syndrome with positive anti-GQ1b antibody. The unusual finding in this patient raises an interesting question on their pathogenesis with the possibility that prior activation of the immune system may predispose the development of autoantibodies against other antigens within the same set of muscles.
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We present 2 patients in whom the predominant neurological complication following lightning strike was spinal cord injury. One patient, who was followed for 5 years, showed clinical, electrophysiologic and MRI evidence of cervical spinal cord injury. ⋯ Follow-up several months later showed almost complete resolution of symptoms. These patients demonstrate that the prognosis of spinal cord injury complicating a lightning strike may not be uniformly poor.
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A number of patients with Parkinson's Disease (PD) complain of painful sensations that might be related not only to peripheral factors (muscle spasms, postural abnormalities) but also to an abnormal processing of nociceptive inputs in the Central Nervous System (CNS). To test this hypothesis, we recorded scalp CO(2) laser evoked potentials (LEPs) to foot skin stimulation in 11 pain-free treated PD patients affected by hemiparkinson (during the off state), in 6 pain-free drug-naïve hemiparkinsonian patients and in 11 healthy subjects. ⋯ ANOVA showed that the N2/P2 amplitude was significantly lower and pain rating significantly increased in treated PD patients than in controls in both the affected and unaffected sides, while in drug-naïve PD patients the reduction of the N2/P2 amplitude and the increase in pain rating were observed only in the affected side. These results suggest that in pain-free PD patients there is an abnormal nociceptive input processing that may be independent of the clinical expression of parkinsonian motor signs.
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Multicenter Study Comparative Study Clinical Trial
Effects of admission glucose level on mortality after subarachnoid hemorrhage: a comparison between short-term and long-term mortality.
Admission hyperglycemia is associated with poor functional outcomes and risk of death in nondiabetic patients with acute ischemic stroke. However, there is still some debate about the effects of hyperglycemia in subarachnoid hemorrhage (SAH) patients. The purpose of this study was to assess whether the admission glucose level in patients with SAH is associated with short- and/or long-term mortality. ⋯ We demonstrated that admission hyperglycemia has a harmful effect on short-term mortality, but not with long-term mortality in SAH patients without diabetes. Our results may be used as further evidence to support a hypothesis of harmful effects of hyperglycemia in SAH patients.