Familial Creutzfeldt Jakob disease (fCJD)
Evidence-based neurology checklist on familial creutzfeldt jakob disease (fcjd): Genetics This is caused by mutations in the human PRP (PRNP) gene The G114V variant mutation has been reported in some families It has also been reported sporadically The onset age is in the 30’s to 40’s Clinical…
Genetics
- This is caused by mutations in the human PRP (PRNP) gene
- The G114V variant mutation has been reported in some families
- It has also been reported sporadically
- The onset age is in the 30’s to 40’s
Clinical features
Investigations
References
- 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. JNNP 1993; 56:1109-1112.
- Gambetti P, Kong Q, Zou W, Parchi P, Chen SG. Sporadic and familial CJD: classification and characterisation. Br Med Bull 2003; 66:213-239.
- Liu Z, Jia L, Piao Y, et al. Creutzfeldt-Jakob disease with PRNP G114V mutation in a Chinese family. Acta Neurol Scand 2010; 121:377-383.
- Rodriguez MM, Peoc'h K, Haïk S, et al. A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease. Neurology 2005; 64:1455-1457.
- Margolesky J, Saporta M. Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant. Neurol Genet 2018; 4:e229.
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