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Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy
- Source :
- Annals of Neurology. 52:355-359
- Publication Year :
- 2002
- Publisher :
- Wiley, 2002.
-
Abstract
- We analyzed the prion protein gene (PRNP) region in patients with transmissible spongiform encephalopathy associated with the PRNP D178N mutation. The results suggest that the D178N chromosomes had independent origins in each affected pedigree or apparently sporadic case. A de novo spontaneous PRNP mutation was observed. We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events.
- Subjects :
- Adult
Male
Amyloid
Prions
animal diseases
Biology
medicine.disease_cause
Prion Proteins
Prion Diseases
PRNP
mental disorders
medicine
Humans
Point Mutation
Protein Precursors
Child
Gene
Aged
Family Health
Genetics
Mutation
Transmissible spongiform encephalopathy
Point mutation
Haplotype
Chromosome
medicine.disease
Virology
Pedigree
nervous system diseases
Haplotypes
Neurology
Female
Neurology (clinical)
Subjects
Details
- ISSN :
- 15318249 and 03645134
- Volume :
- 52
- Database :
- OpenAIRE
- Journal :
- Annals of Neurology
- Accession number :
- edsair.doi.dedup.....aaab98b2405791bfca89429862b6618b