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Hereditary and Metabolic Diseases of the Central Nervous System in Adults
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
This chapter summarizes diagnostic approaches to adult-onset neurogenetic disorders, focusing on identifying treatable neurometabolic disorders. First, elements of the diagnostic workup that can point toward neurogenetic conditions are reviewed. Second, important patterns of clinical presentation are discussed along with their genetic differential diagnoses, as it would not be possible to adequately describe every adult-onset neurogenetic or even neurometabolic disorder within this chapter. Finally, selected neurogenetic disorders are reviewed.
Branching out: Specialties and subspecialties in medical genetics
Published in Peter S. Harper, The Evolution of Medical Genetics, 2019
At a research level, much neurogenetics has now become fused with wider neuroscience, but in terms of clinical practice, it remains largely as a subspecialty, with some workers based in neurology, others in medical genetics. Huntington's disease provides a good example of the longstanding, close and fruitful links between the two specialties: the World Federation of Neurology Research Group on Huntington's Disease (with a strong British representation) has had a powerful influence on genetic research for this disorder for over 50 years, while the UK Huntington's Prediction Consortium, involving all UK centres undertaking this difficult area of medicine, has also been a major factor in helping both specialties to develop high standards of practice in presymptomatic testing, which have proved a paradigm for other late-onset genetic disorders.
Central nervous system
Published in Lisa Jean Moore, Monica J. Casper, The Body, 2014
Lisa Jean Moore, Monica J. Casper
Consistent with the rise of the “neuro,” we have seen the emergence of neuroethics, a field devoted to examining the ethical, legal, and social aspects of neuroscience (Roskies 2002). We’ve also witnessed the emergence of neurogenetics, which looks at the role of genes, genetics, and the human genome in the nervous system (Simón-Sánchez and Singleton 2008). Neurolinguistics explores the ways in which language is developed through neural processes; neuroaesthetics looks at the neural basis of how we look at and appreciate art and other visual media; neuropsychology explores the underlying neural basis of psychological behavior; and neurosociology examines how biological processes and neural networks shape social life (Franks 2007).
The future of psychiatric education
Published in International Review of Psychiatry, 2020
Keith Hariman, José Eduardo López Urquizú, Mariana Pinto da Costa
There has long been resistance towards the inclusion of training in neuroscience into the curriculum of postgraduate psychiatry education. Some have speculated that this resistance stems from a pervasive belief that neuroscience is not related to patient care (Ross, Travis, & Arbuckle, 2015). Whilst the latest developments in neurogenetics research have been ground-breaking, the actual application in daily clinical practice remains limited. The limited mandatory neuroscience education has also compounded this problem. Only a few countries, such as the USA, mandates all trainees to undergo training in neurology for a few months, a requirement not present in many other countries (Shalev & Jacoby, 2019). As psychiatry is fundamentally a disease of the brain, more emphasis should be placed on neuroscience and its relationship with psychiatry. The method of instruction has been of debate as well, with options including dedicated rotations, lectures, journal clubs, brain dissections, and case formulations (Benjamin, 2013). Ultimately, improved communication on the underlying neuroscience pathophysiology may help reduce the stigma attached to psychiatric patients and trainees and conceptualize psychotherapy as a medical intervention (Benjamin, 2013). Further collaboration with colleagues in neurology would ensure an optimum quality and depth of instruction.
Fly seizure EEG: field potential activity in the Drosophila brain
Published in Journal of Neurogenetics, 2021
Studies of the fruit fly Drosophila melanogaster have provided many invaluable insights into the genetic basis of nervous system function underlying behaviors (for review, see Sokolowski, 2001). Such neurogenetic analyses have helped to establish direct links from identified genetic mutations to alterations in nervous system physiology that lead to the behavior of interest. At the behavioral level, a variety of protocols ranging from relatively simple climbing assays (‘negative-geotaxis’) to more sophisticated video analysis of fly behavior have effectively identified and characterized specific abnormalities. In the same mutant flies, alterations in neuronal and synaptic physiology initially uncovered through analysis of peripheral neuromuscular junctions (Ikeda, Ozawa, & Hagiwara, 1976; Jan & Jan, 1976; Siddiqi & Benzer, 1976; Wu, Ganetzky, Jan, Jan, & Benzer, 1978), can provide clear readouts on the role of the genes in regulating membrane excitability and synaptic transmission. Recently, a growing number of studies have extended the cellular-level findings, first established in the peripheral nervous system, by studying central neuronal activity in vivo using patch-clamp recording from neuronal soma (Wilson, Turner, & Laurent, 2004; Worrell & Levine, 2008) and imaging with GCaMP or other genetically encoded fluorophores within individual or groups of identifiable neurons (Lemon et al., 2015; Streit, Fan, Masullo, & Baines, 2016; Wang, Wong, Flores, Vosshall, & Axel, 2003). In addition to these robust protocols established to study detailed behavioral and cellular physiological aspects, it is desirable to elucidate global features of ensemble neural activities across various brain regions during behavioral tasks or neurophysiological events.
Paroxysmal movement disorders – practical update on diagnosis and management
Published in Expert Review of Neurotherapeutics, 2019
Claudio M. De Gusmao, Laura Silveira-Moriyama
In this review, we highlight classic and overlooked clinical features present in these conditions which can serve as diagnostic cues and also direct treatment. Various recent reviews have approached the expanding role of neurogenetics in the diagnosis of these conditions and we briefly summarize these advances, highlighting their correlation with management strategies whenever possible.