title: Genetic testing and counseling in the diagnosis and management of young-onset dementias.
abstract: Young-onset dementia is hereditary, multifactorial, or sporadic. The most common hereditary dementias include Alzheimer disease, frontotemporal degeneration, Huntington disease, prion diseases, and cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Careful attainment of family history assists with diagnosis and determining the likelihood of a genetic cause, and can direct genetic testing. The type of genetic testing depends on confidence of the diagnosis, patient's and affected relatives' symptoms, and the number of disease genes. Single gene, disease-specific gene panels, and large dementia panels are available. Genetic counseling should be given and informed consent obtained. Predictive testing follows the Huntington disease protocol.
authors.affiliation: Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, 630 West 168th Street, Box 16, New York, NY 10032, USA. Electronic address: jg2673@cumc.columbia.edu.
authors.forename: Jill S
authors.initials: JS
authors.lastname: Goldman
mesh_terms: D017668:Age of Onset; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics; D058070:Asymptomatic Diseases; D003704:Dementia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000523:psychology; D019468:Disease Management; D005817:Genetic Counseling / Q000379:methods / Q000523:psychology; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008875:Middle Aged; D019636:Neurodegenerative Diseases / Q000150:complications; D011237:Predictive Value of Tests
keywords: Alzheimer disease; CADASIL; Frontotemporal degeneration; Genetic counseling; Huntington disease; Predictive genetic testing; Presymptomatic testing protocol; Prion disease