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Movement Disorder Genetics
This book covers recent developments and possible pitfalls in the diagnosis of genetic movement disorders and related conditions. It is divided into three sections: technical and scientific aspects; clinical aspects with guidance towards work-up; and ethical and legal aspects of genetic testing in a clinical and research setting. The first section includes chapters on genetic analysis and counselling with critical discussion of potential problems when interpreting the results. Clinical chapters summarize genetic forms of movement disorders including parkinsonism, tics and dystonia with algorithms for hands-on daily practice. Related conditions such as RLS, ataxias and dementias are also covered. Finally, chapters on ethical and legal aspects of genetic testing are included. Movement Disorder Genetics is aimed at clinicians and scientists working in the field of movement disorders and related conditions.
Rethinking the Clinical Gaze
This book draws on medical sociology and science and technology studies to develop a novel conceptual framework for understanding innovation processes, using the case study of deep brain stimulation in paediatric neurology. It addresses key questions, including: How are promising and potentially disruptive new health technologies integrated into busy resource-constrained clinical contexts? What activities are involved in establishing a new clinical service? How do social and cultural forces shape these services, and importantly, how are understandings of ‘health’ and ‘illness’ reconfigured in the process? The book explores how the ideals of patient-centred medicine influence innovation in the clinic, and it introduces the concept of patient-centred proto-platforms. It argues that patient-centred innovation can constitute an expansion of medical power, as the clinical gaze is directed not only towards the body but also towards the patient as a social being. This will be an innovative and insightful read for academics and advanced students, as well as health service researchers with an interest in technology adoption processes.
Biomedical Signals Based Computer-Aided Diagnosis for Neurological Disorders
Biomedical signals provide unprecedented insight into abnormal or anomalous neurological conditions. The computer-aided diagnosis (CAD) system plays a key role in detecting neurological abnormalities and improving diagnosis and treatment consistency in medicine. This book covers different aspects of biomedical signals-based systems used in the automatic detection/identification of neurological disorders. Several biomedical signals are introduced and analyzed, including electroencephalogram (EEG), electrocardiogram (ECG), heart rate (HR), magnetoencephalogram (MEG), and electromyogram (EMG). It explains the role of the CAD system in processing biomedical signals and the application to neurological disorder diagnosis. The book provides the basics of biomedical signal processing, optimization methods, and machine learning/deep learning techniques used in designing CAD systems for neurological disorders.
Genome-wide Association Study in Essential Tremor Identifies Three New Loci
Abstract: We conducted a genome-wide association study of essential tremor, a common movement disorder characterized mainly by a postural and kinetic tremor of the upper extremities. Twin and family history studies show a high heritability for essential tremor. The molecular genetic determinants of essential tremor are unknown. We included 2807 patients and 6441 controls of European descent in our two-stage genome-wide association study. The 59 most significantly disease-associated markers of the discovery stage were genotyped in the replication stage. After Bonferroni correction two markers, one (rs10937625) located in the serine/threonine kinase STK32B and one (rs17590046) in the transcrip...
