Summary of the patients
| Patient | Age (y)/ sex | Diagnosis | Clinical course | Clinical signs of peripheral neuropathy | Patterns of PrP deposits in CNS | PrP gene analysis | ||
|---|---|---|---|---|---|---|---|---|
| Mutation* | Codon129† | Codon219† | ||||||
| *L, leucine; P, proline. | ||||||||
| †E, glutamic acid; M, methionine; V, valine. | ||||||||
| dCJD, dural graft associated Creutzfeldt–Jakob disease; F, female; GSS, Gerstmann–Sträussler–Sheinker disease; m, months; M, male; NCV, nerve conduction velocity; PrP, prion protein; sCJD, sporadic Creutzfeldt–Jakob disease; y, years. | ||||||||
| 1 | 60/F | sCJD | 4 m | – | Synaptic | – | M/M | E/E |
| 2 | 70/M | sCJD | 11 m | – | Synaptic | – | M/M | E/E |
| 3 | 76/F | sCJD (atypical) | 11 m | Myokymia, hyporeflexia, decrease in NCV | Synaptic>plaque | – | M/M | E/E |
| 4 | 69/F | dCJD | 6 m | – | Synaptic | – | M/M | E/E |
| 5 | 42/M | dCJD (atypical) | 13 m | – | Synaptic>plaque | – | M/M | E/E |
| 6 | 38/F | GSS102 | 3 y | Dysaesthesia, areflexia in the legs | Plaque>synaptic | P102L | M/M | E/E |
| 7 | 58/F | GSS105 | 8 y | – | Plaque>synaptic | P105L | M/V | E/E |
| 8 | 53/M | GSS105 | 11 y | – | Plaque>synaptic | P105L | M/V | E/E |