Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Review Meta AnalysisGenetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis.
Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a meta-analysis to determine the mutation frequencies of these major ALS-related genes in patients with ALS. ⋯ These findings demonstrated that the genetic architecture of ALS in Asian populations is distinct from that in European populations, which need to be given appropriate consideration when performing genetic testing of patients with ALS.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Review7T MRI for neurodegenerative dementias in vivo: a systematic review of the literature.
The spatial resolution of 7T MRI approaches the scale of pathologies of interest in degenerative brain diseases, such as amyloid plaques and changes in cortical layers and subcortical nuclei. It may reveal new information about neurodegenerative dementias, although challenges may include increased artefact production and more adverse effects. We performed a systematic review of papers investigating Alzheimer's disease (AD), Lewy body dementia (LBD), frontotemporal dementia (FTD) and Huntington's disease (HD) in vivo using 7T MRI. ⋯ Study limitations included small subject groups, a lack of studies investigating LBD and FTD and an absence of longitudinal data. In vivo 7T MRI may illuminate disease processes and reveal new biomarkers and therapeutic targets. Evidence from AD and HD studies suggest that other neurodegenerative dementias would also benefit from imaging at ultrahigh resolution.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Psychiatric associations of adult-onset focal dystonia phenotypes.
Depression and anxiety frequently accompany the motor manifestations of isolated adult-onset focal dystonias. Whether the body region affected when this type of dystonia first presents is associated with the severity of these neuropsychiatric symptoms is unknown. ⋯ Anxiety and social anxiety severity vary by onset site of focal dystonia, and this variation is not explained by differences in pain and dystonia severity.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
Editorial CommentIs cardiovascular fitness a risk factor for ALS?
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J. Neurol. Neurosurg. Psychiatr. · Jul 2017
ReviewThe changing picture of amyotrophic lateral sclerosis: lessons from European registers.
Prospective population based-registers of amyotrophic lateral sclerosis (ALS) have operated in Europe for over two decades, and have provided important insights into our understanding of ALS. Here, we review the benefits that population registers have brought to the understanding of the incidence, prevalence, phenotype and genetics of ALS and outline the core operating principles that underlie these registers and facilitate international collaboration. Going forward, we offer lessons learned from our collective experience of operating population-based ALS registers in Europe for over two decades, focusing on register design, maintenance, identification and management of bias and the value of cross-national harmonisation and integration.