Journal of neurology
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Restless legs syndrome (RLS) is a common sensorimotor disorder with an estimated prevalence of between 1% and 5%. The symptomatology is characterized by unpleasant sensations experienced predominantly in the legs and rarely in the arms. The symptoms occur only at rest and become more pronounced in the evening or at night. ⋯ Since the cause is unclear, therapy of RLS and PLMS remains symptomatic except for some secondary forms. Studies on the pharmacological treatment of RLS have shown the efficacy of levodopa, dopamine agonists, benzodiazepines, opioids, clonidine and carbamazepine. With regard to the drug treatment of PLMS in other sleep disorders including their isolated occurrence, indications and efficacy have been poorly defined until now.
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Journal of neurology · Apr 1996
The autoimmune reactivity to myelin oligodendrocyte glycoprotein (MOG) in multiple sclerosis is potentially pathogenic: effect of copolymer 1 on MOG-induced disease.
Multiple sclerosis (MS), an autoimmune disease of the central nervous system (CNS) characterized by primary demyelination, is believed to result from an autoimmune attack against myelin components. In view of their ability to induce experimental autoimmune encephalomyelitis (EAE), an animal model for MS, the quantitatively major malign proteins--myelin basic protein (MBP) and proteolipid protein (PLP)--have been extensively studied as the relevant primary antigens in MS, and therapeutic approaches have been targeted to counteract autoimmune reactivity to MBP and PLP. Accordingly, copolymer 1, a random synthetic amino acid copolymer crossreactive with MBP and highly protective against the induction of EAE with MBP or PLP, is not being extensively tested in clinical studies as a therapeutic agent for MS. ⋯ Copolymer 1 was found to inhibit the binding of MOG peptides to MHC molecules, as well as the proliferation of MOG-reactive T cells, in a dose-dependent manner. In parallel, injection of copolymer 1 concomitantly with the encephalitogenic MOG peptide exerted a strong protective effect against the development of EAE. These preliminary data on the effect of copolymer 1 on the autoimmune response to MOG in mice indicate that copolymer 1 may also be effective in cases of MS where the autoimmune response to MOG prevails, and should therefore be further investigated in this context.
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From 1980 to 1992 we followed 12 patients with cardiac myxomas for an average of 4.4 years (8 months-11 years). Presenting symptoms were neurological in four patients (hemiparesis, aphasia, visual field deficits, progressive dementia or vertigo), progressive dyspnoea in six, pulmonary embolism in one, and peripheral arterial or renal emboli in three. The diagnosis was suspected clinically in 11 patients. ⋯ On CT there were many calcified lesions. CT, MR angiography and contrast angiography revealed multiple fusiform aneurysms. The rare occurrence of progressive neurological symptoms after myxoma resection with multiple cerebral lesions and aneurysms should suggest myxoma metastases to the brain.
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Journal of neurology · Feb 1995
Case ReportsRyanodine receptor gene point mutation and malignant hyperthermia susceptibility.
Malignant hyperthermia (MH) is a rare clinical syndrome, triggered in susceptible subjects by a variety of anaesthetic agents and muscle relaxants, and is the commonest cause of death due to general anaesthesia. Previous studies have reported that inherited mutations in the ryanodine receptor (RYR1) gene co-segregated, in some families, with MH susceptibility; lack of linkage between MH and the RYR1 gene in some other families indicates a heterogenous genetic basis for the syndrome. ⋯ In the present study we investigated four families suspected to be at risk of MH susceptibility; in all subjects histopathological examination and IVCT were performed on muscle biopsy specimens. We undertook a mutation analysis of RYR1 gene testing for the presence of five point mutations; in one pedigree a C1840-->T point mutation was detected, strictly segregating with in vitro MH susceptibility.