Approaches to the patient with neurogenetic disease.
The clinical practice of neurogenetics is complex, challenging, and rewarding. Several guidelines are helpful. This article briefly focuses on 8 aspects of clinical neurogenetics, namely (1) factors suggesting the presence of a genetic disease, (2) nonspecific categories that may be hiding neurogenetic diseases, (3) importance of family history, (4) assessment of sporadic cases, (5) genetic counseling, (6) genetic testing, (7) available information resources, and (8) integration of the clinical neurogenetic strategy.
Bird
Thomas D
TD
Department of Neurology, University of Washington, Geriatric Research Center, Veterans Affairs Medical Center, Seattle, WA, USA. tomnroz@u.washington.edu
D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010375:Pedigree