Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Feb 2012
Case ReportsAdult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Inherited ataxias are heterogeneous disorders affecting both children and adults. The primary cause can be identified in about half of the patients and only very few can receive causative therapy. ⋯ These observations highlight the importance of screening for a potentially treatable cause, CABC1/ADCK3 mutations, not only in severe childhood-onset ataxia, but also in patients with mild cerebellar ataxia in adult life.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2012
Case ReportsPallidal deep brain stimulation for DYT6 dystonia.
Mutations of the THAP1 gene were recently shown to underlie DYT6 torsion dystonia. Little is known about the response of this dystonia subtype to deep brain stimulation (DBS) at the internal globus pallidus (GPi). ⋯ While early results of pallidal DBS for DYT6 dystonia are encouraging, further research and additional subjects are needed both to optimise stimulation parameters for this population and to elucidate more accurately their response to surgical treatment.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2012
Randomized Controlled TrialDeep brain stimulation in early stage Parkinson's disease: operative experience from a prospective randomised clinical trial.
Recent evidence suggests that deep brain stimulation of the subthalamic nucleus (STN-DBS) may have a disease modifying effect in early Parkinson's disease (PD). A randomised, prospective study is underway to determine whether STN-DBS in early PD is safe and tolerable. ⋯ The perioperative adverse events in this trial of subjects with early stage PD are comparable with those reported for STN-DBS in advanced PD. The active contact position used in early PD is not significantly different from that used in late stage disease. This is the first report of the operative experience from a randomised, surgical versus best medical therapy trial for the early treatment of PD.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2012
When a minor head injury results in enduring symptoms: a prospective investigation of risk factors for postconcussional syndrome after mild traumatic brain injury.
A significant proportion (15-30%) of patients with mild traumatic brain injury (MTBI) are at risk of developing postconcussional syndrome (PCS). The aim of this study was to investigate the contributions of cognitive, emotional, behavioural and social factors to the development of PCS and identify early predictors. ⋯ The study provides good support for the proposed cognitive behavioural model. Patients' perceptions of their head injury and their behavioural responses play important roles in the development of PCS, indicating that cognitive and behavioural factors may be potential targets for early preventive interventions.