Table 1.
Mutations may be involved in CJD (and FFI)
| Mutation | Age onset | Family history | Clinical phenotype | Regions where the mutation was reported |
|---|---|---|---|---|
| D178N | Highly variable | Usually familial | CJD and FFI Depends on the allele on codon 129: M allele was associated with FFI, while V allele with CJD |
USA |
| V180I | Mostly in the elder ages, 60s–70s | Familial and sporadic | Slow disease progression Higher cortical dysfunctions |
Korea, Japan, USA, France |
| T188K | Mostly in the elder ages | Sporadic or unknown | Dementia, ataxia, drastic visual problems Personality changes, motor impairment can also be possible |
Germany, Australia, China |
| E196K | 60s–70s–80s | Sporadic or unknown | CJD, atypical form of CJD Progressive dementia and movement impairment Abnormalities in behavior, parkinsonism |
France, China, Germany |
| E196A | 70s | De novo | CJD, memory decline, personality changes appeared in the patient, followed by motor aphasia | China |
| E200K | Wide range, 30s–60s | Familial and sporadic | CJD, neuronal loss, and spongiform degeneration Dysfunctions in the CNS, and spinal chord Uncommon features: fatal insomnia, pruritus, or demyelinating peripheral neuropathy |
Jewish patients in Libya, other Asian and European countries |
| E200G | NA | Sporadic | CJD | UK |
| V203I | Later lifetime, 70s–80s | Mostly sporadic | Monocular diplopia and dizziness, later confusion and hallucinations Tremor, cerebellar gait, coordination deficit, myoclonus, and rapid loss of vocabulary and memory |
France, Korea, China, Japan |
| R208H | Variable, 45–69 years | Sporadic or unknown | CJD, anorexia, ataxia, agitation, and cognitive decline | Europe, China |
| V210I | Variable | Familial or de novo | Typical CJD Similar phenotype like sporadic CJD |
Europe, Japan, Korea, Africa |
| E211Q | Later lifetime, 70s–80s | Familial | CJD, personality changes, ataxia, myoclonus, and rapidly progressive dementia | France, Italy |
| I215V | 50s or 70s | De novo | AD or CJD | Spain |
| M232R | Variable | Familial and sporadic | Rapid, typical CJD Slow progressive CJD with dementia DLB-like symptoms |
Asia: Korea, China, Japan |
| Double octapeptide deletion | Unknown | Unknown | CJD and rapidly progressive dementia | USA |
| Octapeptide insertions | Mostly early onset | Mostly familial | 1–9 octapeptide insertions Sporadic CJD-like phenotype Amyloid plaques might be present Usually highly transmittable |
Europe, Asia |
Abbreviations: CJD, Creutzfeldt–Jakob disease; FFI, fatal familial insomnia; CNS, central nervous system; AD, Alzheimer’s disease; DLB, dementia with Lewy bodies; NA, not available.