Familial Creutzfeldt Jakob disease (fCJD)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Familial Creutzfeldt Jakob disease (fCJD). This is caused by mutations in the human PRP (PRNP) gene. Fully referenced neurology checklist.
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
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Investigations
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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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