Preliminary evidence for anticipation in genetic E200K Creutzfeldt-Jakob disease

Neurology

Volumn 53, Issue 6, 1999, Pages 1328-1329

  Rosenmann, H ^a,b   Kahana, E ^c   Korczyn, A D ^d   Kahana, I ^a,b   Chapman, J ^d   Gabizon, Ruth ^a,b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b BARZILAI MEDICAL CENTER   (Israel)

^c BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

Author keywords

Creutzfeldt Jakob disease; E200K mutation; Libyan Jewish

Indexed keywords

ADULT; AGED; ARTICLE; CREUTZFELDT JAKOB DISEASE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032852301     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.6.1328     Document Type: Article

References (10)

1. Hsiao K, Meiner Z, Kahana E, et al. Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease. N Engl J Med 1991;324:1091-1097.
2. Goldfarb LG, Brown P, Mitrova E, et al. Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families. Eur J Epidemiol 1991;7:477-486.
3. Gabizon R, Rosenmann H, Meiner Z, et al. Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD). Am J Hum Genet 1993;53: 828-835.
4. Spudich S, Mastrianni JA, Wrensch M, et al. Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene. Mol Med 1995; 1:607-613.
5. Chapman J, Brown P, Goldfarb LG, Arlazoroff A, Gajdusek DC, Korczyn AD. Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation. J Neurol Neurosurg Psychiatry 1993;56:1109-1112.
6. Carpenter NJ. Genetic anticipation. Expanding tandem repeats. Neurol Clin 1994;12:683-697.
7. La Spada AR, Paulson H, Fischbeck KH. Trinucleotide repeat expansion in neurological disease. Ann Neurol 1994;36:814-822.
8. Lopez de Munain A, Blanco A, et al. Anticipation in myotonic dystrophy: a parental-sex-related phenomenon. Neuroepidemiology 1994;13:75-78.
9. Ranen NG, Stine OC, Abbott MH, et al. Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am J Hum Genet 1995;57:593-602.
10. Goldfarb LG, Mitrova E, Brown P, Toh BK, Gajdusek DC. Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. Lancet 1990;336:514-515. Letter.