A case with a 120 base pair insertional mutation in the prion protein gene: The first case in Japan

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 76, Issue 5, 2005, Pages 756-757

  Beck, G ^a   Kowano, T ^a   Naba, I ^a   Nishimura, T ^a   Sawada, J ^a   Hazama, T ^a  

^a OSAKA GENERAL MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PRION PROTEIN;

ADULT; BASE PAIRING; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHROMOSOME 20; CLINICAL FEATURE; DEMENTIA; DETERIORATION; DNA SEQUENCE; ELECTROENCEPHALOGRAM; FEMALE; GENE INSERTION; GENE LOCATION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; INTELLIGENCE QUOTIENT; JAPAN; LETTER; PRION DISEASE; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

EID: 17644411960     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2004.048553     Document Type: Letter

References (4)

1. Knight RSG, Will RG. Prion diseases. J Neural Neurosurg Psychiatry 2004;75(suppl 1):i36-42.
2. Goldfarb LG, Brown P, McCombie WR, et al. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA 1991;188:10926-30.
3. Cochran EJ, Bennet DA, Cervenakova L, et al. Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation. Neurology 1996;47:727-33.
4. Skworc KH, Windl O, Schulz-Schaeffer WJ, et al. Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene. Ann Neurol 1999;46:693-700.