Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Oct 2014
Clinical TrialControlled general anaesthesia for subthalamic nucleus stimulation in Parkinson's disease.
To report the short-term (1 year) and long-term (5 years) outcome of patients with Parkinson's disease (PD) with subthalamic nucleus (STN) stimulation operated upon under controlled general anaesthesia (GA). ⋯ Our results confirm that STN stimulation performed under controlled GA is efficient and has similar short-term and long-term motor effects than intervention under local anaesthesia. Furthermore, this specific procedure is not associated with more adverse events. The success of such an intervention requires strict anaesthetic monitoring and accurate STN identification.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2014
Multicenter StudyIncreased mortality persists in an adult drug-resistant epilepsy prevalence cohort.
To investigate the cumulative probability of death and the standardised mortality ratio (SMR) in an adult drug-resistant epilepsy (DRE) population. ⋯ Mortality is increased in this drug-resistant population; largely driven by those with a known epilepsy aetiology. The increased mortality remains even after exclusion of those with a progressive aetiology. Previous studies of incident epilepsy cohorts revealed increased mortality that declines to near-normal levels after the first several years, but in our DRE cohort, mortality remains elevated despite a median duration of epilepsy of 25 years at study entry.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2014
Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.
Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in the muscle fibres which correspond to broad areas of myofibrils disorganisation, Z-line streaming and lack of mitochondria. Heterozygous mutations in the RYR1 gene were observed in the large majority of AD-CCD families; however, this gene was excluded in some of AD-CCD families. ⋯ We describe MYH7 as an additional causative gene for AD-CCD. These findings have important implications for diagnosis and future investigations of AD-congenital myopathies with cores, without cardiomyopathy, but presenting a particular involvement of distal and quadriceps muscles.