Movement Disorder Genetics [[electronic resource] /] / edited by Susanne A. Schneider, José M. Tomás Brás

• Record Nr.: UNINA9910300218203321
• Pubbl/distr/stampa: Cham : , : Springer International Publishing : , : Imprint : Springer, , 2015
• ISBN: 3-319-17223-9
• Edizione: [1st ed. 2015.]
• Descrizione fisica: 1 online resource (529 p.)
• Disciplina: 599935; 610; 611.01816; 616.8
• Soggetti: Neurology ; Human genetics; Neurology; Human Genetics
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references at the end of each chapters and index.
• Nota di contenuto: Genetics of Mendelian Forms of Parkinson’s Disease -- Genetics of Parkinson’s Disease -- Genetics of Atypical Parkinsonism -- Genetics of Dementia with Lewy Bodies -- Genetics of Frontotemporal Dementia -- Genetics of Primary Tremor Disorders -- Genetics of Dystonia -- Genetic Choreas -- Genetics of Tourette Syndrome -- Genetics of Paroxysmal Dyskinesia -- Genetics of Dominant Ataxias -- Genetics of Recessive Ataxias -- Genetics of NBIA Disorders -- Genetics of Metal Disorders (Excluding NBIA) -- Genetics of Restless Legs Syndrome (RLS) -- Genetics of Hereditary Spastic Paraplegias (HSP) -- Genetics of ALS -- Genetics of Mitochondrial Disease with Focus on Movement Disorders -- Introduction to Genetics and Genetic Counseling for Clinicians -- Genetic Testing - An Industrial Perspective -- Direct-to-Consumer DNA Genetic and Genomic Testing -- Current Ethical Issues Related to the Implementation of Whole Exome and Whole Genome Sequencing -- Implications for Health and Life Insurances and Other ; Legal Aspects of Genetic Testing.
• Sommario/riassunto: 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. .