Journal of neurology
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Journal of neurology · Jan 2012
Case ReportsSuccessful subthalamic stimulation in genetic Parkinson's disease caused by duplication of the α-synuclein gene.
The α-synuclein gene (SNCA) multiplication causes autosomal dominant Parkinson's disease (PD). Particularly triplication, but also duplication, of the SNCA is associated with early-onset rapidly progressing parkinsonism with increased risk of cognitive impairment. There is no report about the effect and safety of Deep Brain Stimulation (DBS) in carriers of this mutation and, in general, data in patients with genetic parkinsonism are scarce. ⋯ Postoperative cognitive testing showed a decline in executive functions, mostly verbal fluency and attention shifting, compared with presurgical assessment. STN-DBS is safe and effective in patients with SNCA duplication showing a clinical pattern similar to idiopathic PD. Our case suggests that clinical phenotype rather genotype is the main predictor for DBS outcome.
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Journal of neurology · Jan 2012
Can fast-component of nystagmus on caloric vestibulo-ocular responses predict emergence from vegetative state in ICU?
The aim of the study was to determine if bedside caloric vestibulo-ocular responses (VOR) are able to predict consciousness recovery from clinically determined vegetative state (VS) in the ICU. Twenty-six severely brain injured patients that were clinically in VS were included. Horizontal VOR were tested at bedside by cold-water irrigation of the external auditory canal. ⋯ All the patients that recovered consciousness (13, 100%) presented a fast-component of nystagmus during VOR testing compared to only one of 11 patients (8%) in the group that remained unconscious. Sensitivity of fast-component of nystagmus during VOR testing to predict recovering of consciousness was 1.00, specificity was 0.92, positive predictive value was 0.93 and negative predictive value was 1.00. Bedside VOR testing in clinically VS patients seems able to predict consciousness recovery from vegetative state and could help to preclude active medical treatment withdrawal and to indicate the need for further complementary explorations, i.e. event-related potentials, functional MRI or PET-scan.