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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Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent forms of muscular dystrophy. The aims of this study were: 1) to evaluate the prevalence of sleep disordered breathing (SDB) in patients with FSHD; 2) to define the sleep-related respiratory patterns in FSHD patients with SDB; and 3) to find the clinical predictors of SDB. Fifty-one consecutive FSHD patients were enrolled, 23 women, mean age 45.7+/-12.3 years (range: 26-72). ⋯ The presence of SDB does not depend on the clinical severity of the disease. SDB is often asymptomatic, and no clinical or physical measure can reliably predict its occurrence. A screening of SDB should be included in the clinical assessment of FSHD.
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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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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.
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The purpose of the study is to investigate the embolic potential as well as ultrasonic characteristics of plaques in patients presenting with severe unilateral restenosis at least 1 year after carotid endarterectomy (CEA), compared with patients with severe unilateral primary carotid stenosis. ⋯ Carotid plaques in patients with severe unilateral carotid restenosis at least 1 year after surgery and in patients with primary lesions are similar in their embolic potential and ultrasonic characteristics.