Genetic CJD

Overview

Genetic (or Familial) CJD is a rapidly progressive prion disease typically marked by rapid neurological and cognitive deterioration.

Symptoms

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.

Type

Genetic

Occurrence

Genetic prion diseases, including gCJD, make up about 10 to 15 percent of all cases of human prion diseases.

Duration

Generally a few months to 2 years; sometimes has a longer duration than Sporadic CJD

Age of onset

Usually mid-life, 40s, 50s, 60s; often starts at an earlier age than Sporadic CJD

Diagnosis

Clinical examination, genetic testing, MRI, EEG, Spinal Tap (best practice is the RT-QuIC test); contact the CJD Foundation for important information and referrals

Mutations

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.


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