Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2015
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
Spinocerebellar ataxia 36 (SCA36) is an autosomal-dominant neurodegenerative disorder caused by a large (>650) hexanucleotide GGCCTG repeat expansion in the first intron of the NOP56 gene. The aim of this study is to clarify the prevalence, clinical and genetic features of SCA36. ⋯ SCA36 is rare with a worldwide distribution. It can be caused by a short GGCCTG expansion and associates various extracerebellar symptoms.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2015
Quantitative correlation between cardiac MIBG uptake and remaining axons in the cardiac sympathetic nerve in Lewy body disease.
Reduced cardiac meta-iodobenzylguanidine (MIBG) uptake and loss of cardiac sympathetic axons, as its possible anatomical substrate, were both recognised in Lewy body disease (LBD), while their direct correlation has so far remained speculative. Increasing availability of autopsy-confirmed cases of LBD prompted us to quantify residual cardiac sympathetic axons to establish their relationship to cardiac MIBG uptake. ⋯ Tight quantitative correlation between cardiac (123)I-MIBG uptake and corresponding loss of sympathetic axons in LBD, as established for the first time by this study, provides a scientific basis to confirm the reliability of MIBG cardiac scintigraphy as a powerful clinical tool to detect loss of these axons as a biomarker for the presence of Lewy body disease.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2015
Randomized Controlled TrialPer cent of patients with chronic migraine who responded per onabotulinumtoxinA treatment cycle: PREEMPT.
The approved use of onabotulinumtoxinA for prophylaxis of headaches in patients with chronic migraine (CM) involves treatment every 12 weeks. It is currently unknown whether patients who fail to respond to the first onabotulinumtoxinA treatment cycle will respond to subsequent treatment cycles. To help inform decisions about treating non-responders, we examined the probability of treatment cycle 1 non-responders responding in cycle 2, and cycle 1 and 2 non-responders responding in cycle 3. ⋯ A meaningful proportion of patients with CM treated with onabotulinumtoxinA who did not respond to the first treatment cycle responded in the second and third cycles of treatment.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2015
Randomized Controlled TrialDantrolene for cerebral vasospasm after subarachnoid haemorrhage: a randomised double blind placebo-controlled safety trial.
Dantrolene is neuroprotective in animal models and may attenuate cerebral vasospasm (cVSP) in human aneurysmal subarachnoid haemorrhage (aSAH). We evaluated safety, feasibility and tolerability of intravenous dantrolene (IV-D) in patients with aSAH. ⋯ In this small trial, IV-D after aSAH was feasible, tolerable and safe.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2015
Comparing brain structural MRI and metabolic FDG-PET changes in patients with ALS-FTD: 'the chicken or the egg?' question.
Our previous voxel based morphometry (VBM) studies in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (ALS-FTD) showed reduced motor and extramotor grey matter (GM) volume when compared to neurological controls. However, erroneously high GM values can result because VBM analysis includes both cortical gyri and sulci as a single GM region. In addition, the relationship between structural and functional changes is unknown. Therefore, we determined whether GM volumetric changes seen in patients with ALS-FTD were due to changes in cortical thickness, area or both, and compared these structural changes with metabolic changes as revealed by positron emission tomography (PET). ⋯ Metabolic changes corresponded well with structural changes in motor and extramotor areas, and sometimes occurred even in the absence of GM volume reduction. Coincident structural and functional GM changes suggest that neurodegeneration may occur as "neuronopathy" in patients with ALS-FTD.