title: Practical approaches to neurogenetic disease.
abstract: Over the past 15 years, molecular genetic advances have led to new approaches for evaluation of neurogenetic disease. New diagnostic tests are available, and in some cases new diseases have been defined. However, effective use of these new tests still relies on solid clinical assessment to prioritize testing and interpret results. This review presents applications of genetic advances to a series of neurogenetic disorders, emphasizing the specific uses of genetic testing and the clinical questions that may arise. The rapid expansion in molecular diagnostics and genomics has fundamentally changed the approach to neurogenetic illnesses. Use of molecular biologic techniques has elucidated new disease mechanisms and allowed the application of genetic concepts to classically nongenetic illnesses. This has led to a wealth of new clinical information and created new dilemmas in patient care. In addition, it has brought into common usage a series of clinical genetic terms, such as variable expressivity (the range of phenotypic features in which the same disease can manifest) and anticipation (the progressively earlier age of onset of a specific disease in a family). This review provides a practical approach for neurogenetic evaluation of individuals who are likely to present in neuro-ophthalmologic practices with inherited ataxias, myotonic dystrophy, oculopharyngeal dystrophy, and Parkinson disease.
authors.affiliation: Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA. lynch@pharm.med.upenn.edu
authors.forename: David R
authors.initials: DR
authors.lastname: Lynch
authors.forename: Jennifer
authors.initials: J
authors.lastname: Farmer
mesh_terms: D001259:Ataxia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000235:genetics; D005799:Genes, Dominant; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D039141:Muscular Dystrophy, Oculopharyngeal / Q000175:diagnosis; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D010300:Parkinson Disease / Q000175:diagnosis