Journal of the neurological sciences
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A 52-year-old, right-handed female presented with visuospatial dysfunction including left hemineglect, incomplete Balint's syndrome, and environmental agnosia, together with left-sided motor symptoms such as unskillful movement, dystonic postures, and myoclonus in the left hand, without significant dementia. Symptoms progressed to akinetic mutism prior to her death 10 years after onset of illness. Imaging studies such as MRI, SPECT, and PET studies showed severe, predominantly right-sided involvement of parietal and parieto-occipital areas. ⋯ An analysis of serum apolipoprotein E revealed epsilon3/epsilon3 homozygosity. This case represents a variant of Alzheimer's disease conspicuous for progressive motor signs and visuospatial dysfunction with a striking laterality, reflecting asymmetric parietal involvement. Alzheimer's disease with asymmetric parietal atrophy is difficult to be clinically distinguished from corticobasal degeneration characterized by progressive unilateral motor signs and focal cortical signs.
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Gene mutations of superoxide dismutase (SOD) have been discovered in familial amyotrophic lateral sclerosis (ALS). Neuronal nitric oxide synthase (NOS), endothelial NOS and 3-nitrotyrosine immunoreactivities are selectively increased in the spinal motoneurons of sporadic ALS. Other study suggests that 3-nitrotyrosine immunoreactivity is enhanced in the spinal motoneurons of sporadic and familial ALS patients. ⋯ In comparison with vehicle, 7-nitroindazole-treated mice potentiated grip strength and attenuated deformities in the forelimbs. 7-Nitroindazole treatment increased the biceps muscle weight, reduced denervation muscle atrophy, and suppressed degeneration of spinal motoneurons. To a lesser degree, L-NAME-treated mice displayed slowed progression of disease. The present studies indicate that neuronal NOS inhibitor may be a candidate for promising therapy in lower motoneuron disease or motor neuropathy.
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Review Practice Guideline Guideline
Consensus opinion on diagnosis of cerebral circulatory arrest using Doppler-sonography: Task Force Group on cerebral death of the Neurosonology Research Group of the World Federation of Neurology.
Oscillating flow or systolic spikes are typical Doppler-sonographic flow signals found in the presence of cerebral circulatory arrest, which if irreversible, results in brain death. The Neurosonology Research Group (NSRG) of the World Federation of Neurology (WFN) created a Task Force Group in order to evaluate the role of Doppler-sonography as a confirmatory test for determining brain death. ⋯ Extra- and intracranial Doppler-sonography is a useful confirmatory test to establish irreversibility of cerebral circulatory arrest as optional part of a brain death protocol. Doppler-sonography is of special value when the therapeutic use of sedative drugs renders electroencephalography unreliable. Doppler-sonographic criteria are defined and guidelines for the use of Doppler-sonography in this setting are presented.
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Clinical Trial Controlled Clinical Trial
Clinical and electrophysiological findings in critical illness polyneuropathy.
Sixty two patients with critical illness polyneuropathy (CIP) were studied prospectively to determine the clinical and electrophysiological profile, to assess the prognostic value of respiratory electrophysiology in determining the duration of ventilation and to analyze the role of neuromuscular blocking agents (NMBA) and steroids. Limb motor and sensory nerve conductions, bilateral phrenic nerve onset latencies, bilateral diaphragmatic compound muscle action potentials (CMAP), unilateral diaphragmatic needle electromyography (EMG), limb muscle EMG, time on the ventilator, time in the intensive care unit (ICU), dosage of NMBA and steroids were analyzed in 62 patients. The diagnosis of CIP was made by clinical criteria, electrophysiological criteria and exclusion of any other condition suspicious of an axonal neuropathy. ⋯ These patients had normal CK-levels and normal findings, unspecific changes, type 2 fibre atrophy or denervation atrophy on muscle biopsy. Seventy seven per cent of patients had abnormal diaphragmatic CMAPs and spontaneous activity in the diaphragm indicating denervation of the diaphragm is common in CIP. There was no statistically significant relationship to the dosage of NMBA and steroids, and the respiratory electrophysiological studies, duration of ventilation and stay in the ICU.
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Case Reports Comparative Study
Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: comparison with the phenotype and the proportion of mutant genome.
An A-to-G point mutation at nucleotide pair (np) 3243 (3243 mutation) in mitochondrial DNA (mtDNA) is a well-known pathogenic mutation, which has been found in approximately 80% of patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). It has been reported that the 3243 mutation also occurs in individuals with non-MELAS phenotypes. The reasons for the phenotypic heterogeneity of the 3243 mutation have not been clarified, although it may be closely related with mtDNA heteroplasmy and their differing proportions in different tissues. ⋯ In both phenotypes, ragged-red fibers (RRF) contained a higher percentage of mutant DNA (average 89.8%) than non-RRF (average 42.4%). On the other hand, the proportion of mutant DNA in non-RRF revealed a wider range than in RRF and the average was higher in MELAS patients (58.5+/-27.3%) than that in MDM patients (26.3+/-27.9%), which correlated with biochemical and morphological mitochondrial abnormalities in muscle. These findings may reflect the underlying mechanisms of tissue specificity in each phenotype.