Creutzfeldt-Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP

Neurology

Volumn 63, Issue 10, 2004, Pages 1978-1979

  Nishida, Y ^a,b   Sodeyama, Nobuyuki ^b   Toru, Y ^a,b   Toru, S ^a,b   Kitamoto, T ^c   Mizusawa, H ^b  

^a Toshiba Rinkan Hospital   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PRION PROTEIN;

AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CAUSE OF DEATH; CODON; CREUTZFELDT JAKOB DISEASE; DISEASE COURSE; DNA EXTRACTION; GENE INSERTION; GENETIC POLYMORPHISM; GENOTYPE; HOMOZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; MYOCLONUS; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PRIORITY JOURNAL;

EID: 8844228940     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000144196.43430.E1     Document Type: Article

References (7)

1. Kovacs GG, Trabattoni G, Hainfellner JA, Ironside JW, Knight RS, Budka H. Mutations of the prion protein gene phenotypic spectrum. J Neurol 2002;249:1567-1582.
2. Pietrini V, Puoti G, Limido L, et al. Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene. Neurology 2003;61:1288-1291.
3. Shibuya S, Higuchi J, Shin RW, Tateishi J, Kitamoto T. Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1998;43:826-828.
4. Seno H, Tashiro H, Ishino H, Inagaki T, Nagasaki M, Morikawa S. New haplotype of familial Creutzfeldt-Jakob disease with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family. Acta Neuropathol 2000;99:125-130.
5. Kretzschmar HA, Stowring LE, Westaway D, Stubblebine WH, Prusiner SB, Dearmond SJ. Molecular cloning of a human prion protein cDNA. DNA 1986;5:315-324.
6. Annual report of the prion disease and slow virus infection research committee, the Ministry of Health, Labour and Welfare, Japan; March 2003.
7. Tanaka Y, Minematsu K, Moriyasu H, et al. A Japanese family with a variant of Gerstmann-Straussler-Scheinker disease. J Neurol Neurosurg Psychiatry 1997;62:454-457.