Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2015
Associations of cytokine genes with Alzheimer's disease and depression in an elderly Korean population.
Inflammatory processes regulated by cytokines are important in the aetiology of Alzheimer's disease (AD) and depression. Differences in transcriptional activities associated with several genetic polymorphisms affect cytokine production. We investigated the involvement of alleles associated with higher production of proinflammatory and lower production of anti-inflammatory cytokines in AD and depression in a community-dwelling sample of elderly individuals. ⋯ The present findings support the inflammatory hypothesis in the aetiology of AD as measured by several cytokine genes associated with increased proinflammatory cytokine production.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2015
Limbic encephalitis due to GABAB and AMPA receptor antibodies: a case series.
Two novel antibodies (abs) directed to γ-aminobutyric acid B receptor (GABA(B)R) and α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) in patients with limbic encephalitis (LE) were first described by the Philadelphia/Barcelona groups and confirmed by the Mayo group. We present a novel series for further clinical and paraclinical refinement. ⋯ GABA(B)R and AMPAR abs are well associated with LE. GABA(B)R abs lead to severe clinical, neuroradiological and EEG abnormalities with poorer outcome.
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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
Comparison of stroke recognition and stroke severity scores for stroke detection in a single cohort.
First, to determine the sensitivity and specificity of six stroke recognition scores in a single cohort to improve interscore comparability. Second, to test four stroke severity scores repurposed to recognise stroke in parallel. ⋯ The simple CPSS and FAST scores provide good sensitivity for stroke recognition. More complex scores do not result in better diagnostic performance. Stroke severity scores can be repurposed to recognise stroke at the same time because test characteristics are comparable with pure stroke recognition scores. Particular shortcomings of the individual scores are discussed.