Article
When sporadic disease is not sporadic: the potential for genetic etiology.
Archives of neurology - 1 Feb 2004
Goldman Jill S, Miller Bruce L, Safar Jiri, de Tourreil Sunita, Martindale Jennifer L, Prusiner Stanley B, Geschwind Michael D
Abstract excerpt
BACKGROUND: Approximately 2% of Alzheimer disease cases and 10% to 15% of prion disease cases are due to mutations in autosomal dominant genes. Mutations have been found in patients without family histories of neurological disease. OBJECTIVES: To emphasize the need for consideration of a genetic etiology of prion disease and early-onset Alzheimer disease, regardless of the absence of a significant family history,...
Topics
- Alzheimer Disease
- Amyloid
- Creutzfeldt-Jakob Syndrome
- Female
- Genetic Counseling
- Humans
- Male
- Membrane Proteins
- Middle Aged
- Mutation
- Presenilin-1
- Prion Proteins
- Prions
- Protein Precursors