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
ReviewCerebrospinal fluid biomarkers in parkinsonian conditions: an update and future directions.
Parkinsonian diseases comprise a heterogeneous group of neurodegenerative disorders, which show significant clinical and pathological overlap. Accurate diagnosis still largely relies on clinical acumen; pathological diagnosis remains the gold standard. ⋯ In this review, several of the most promising cerebrospinal fluid candidate markers will be discussed. Their strengths and limitations will be considered together with future developments in the field.
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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.