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. |
Resources:
- Inherited prion disease, MRC Prion Unit http://www.prion.ucl.ac.uk/clinic-services/information/inherited-prion-disease/
- Genetic Prion Diseases, GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1229/
- Kong Q et al. Inherited Prion Disease, In: Prion Biology and Diseases, Ed. Stanley Prusiner, Cold Spring Harbor Laboratory Press: 2004, pp. 673-775
- Trevor's Story
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