Genetic (or Familial) CJD is a rapidly progressive prion disease typically marked by rapid neurological and cognitive deterioration.
Typical symptoms: personality changes, anxiety, depression, memory loss, impaired thinking, vision abnormalities, insomnia, difficulty speaking, difficulty swallowing, myoclonus (sudden jerky movements), impaired balance and falling, tremors and weakness.
Genetic prion diseases, including gCJD, make up about 10 to 15 percent of all cases of human prion diseases
Generally a few months to 2 years; sometimes has a longer duration than Sporadic CJD
Usually mid-life, 40s, 50s, 60s; often starts at an earlier age than Sporadic CJD
Clinical examination, genetic testing, MRI, EEG, Spinal Tap (best practice is the RT-QuIC test); contact the CJD Foundation for important information and referrals
Over 50 different mutations in the gene that encodes the prion protein are known. Mutations may occur in many different regions of the prion protein gene. The most common mutations are at codons 178, 200, and 210. Some mutations have been observed in only one or two families.
This website was made possible by a generous donation from Cookie Stivison, in memory of her husband Tom Stivison, and a grant from the Centers for Disease Control and Prevention.