Journal of the neurological sciences
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The presence of a hyperdense middle cerebral artery sign (HMCAS) on baseline brain CT is associated with poor clinical outcome in stroke patients treated with intravenous recombinant tissue plasminogen activator (tPA). It remains uncertain whether the presence of HMCAS is associated with acute neurological deterioration after tPA treatment. ⋯ The HMCAS is associated with early neurological deterioration and poor functional outcome, but not with symptomatic ICH.
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Polymorphism at codon 219 lysine in prion protein (PrP) is considered to affect the clinicopathological features of prion diseases including Creutzfeldt-Jakob disease (CJD) and to have an inhibiting effect on the pathogenesis of these diseases. We describe the first autopsied case of dura mater graft-associated CJD (dCJD) with heterozygosity of lysine at codon 219 in PrP observed in a Japanese subject. ⋯ These findings in this case were atypical of the non-plaque type of dCJD and MM1 subgroup of CJD. Thus, these findings can be unique to dCJD with codon 219 lysine allele, and this allele may influence the clinicopathological features and PrP profiles in dCJD.
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Case Reports
Reversible metronidazole-induced cerebellar toxicity in a multiple transplant recipient.
Metronidazole-induced central nervous system (CNS) toxicity causes a spectrum of neurological symptoms including ataxia, encephalopathy and peripheral neuropathy. It is associated with characteristic MRI changes of high signal intensity in the dentate nuclei. Given the increasing use of metronidazole, it is import to recognise this drug as a cause of ataxia, as it is entirely reversible on drug withdrawal.
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The exact cause of amyotrophic lateral sclerosis (ALS) is unknown. Oxidative stress is one of the factors implicated in the etiology of ALS as well as in that of other neurodegenerative diseases. Uric acid is an important natural antioxidant that may reduce oxidative stress. The objective of this study was to prospectively determine the serum uric acid levels in ALS patients and allegedly healthy individuals and to correlate those values with measures of ALS disease progression among the patients. ⋯ ALS patients had lower serum uric acid levels than healthy individuals. The decreased uric acid levels were correlated to the rate of disease progression (ALSFRS-R decline), further demonstrating the possible role of oxidative stress in the induction and propagation of the disease.
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Despite the genetic heterogeneity reported in familial ALS (FALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the most frequent cause of FALS, accounting for around 20% of familial cases (ALS1) and isolated sporadic cases. Some mutations are associated with a long survival time, while others are linked to a very rapid progression. Clinical-genetic characterization of ALS1 families is therefore important as it can provide information on the phenotype associated with a given mutation, the distribution of SOD1 mutations in different ethnic groups, and can clarify the genotype-phenotype correlation in patients with SOD1 gene mutations. ⋯ p.E22G is the ninth SOD1 gene mutation reported in Spain, and the third of these to be associated with long survival (the other two being p.G38R--previously G37R, and p.D77V--previously D76V). Our results emphasize the importance of genetic and clinical characterization of ALS1 families around the world for understanding the genotype-phenotype relationships of each SOD1 gene mutant and their relative frequency in different ethnic groups worldwide.