Table 1.
Characteristics of the R1441G-PD patients in 2012 and updated date about the current cohort.
| 2012 Ruiz-Martínez J. | 2020 Vinagre-Aragón A. | |
|---|---|---|
| Basque origin | 94% | 81% |
| PD family history | 91% | 80% |
| Homozygous | 0 | 1% |
| Phenocopy | 0 | 1% |
| Gender (male/female) | 48.5% | 51% |
| Mean age (years) | 74.6 | 77.9 |
| Mean age at onset (years) | 61.8 | 62.7 |
| Mean disease duration (years) | 12.7 | 14.9 |
| Levodopa response | 100% | 100% |
| Equivalent levodopa (mg/day) | 875 | 767.1 |
| Advanced therapies - Deep Brain Stimulation (DBS) - Continuous apomorphine infusion (CAI) - Continuous intrajejunal infusion of levodopa/carbidopa gel (CIILG) |
1 DBS | 5 DBS, 3 CAI, 1CIILG |
| H&Y | 2.91 | 2.71 |
| Motor phenotype | ||
| - Tremor | 60% | 55.36% |
| - Rigid-akinetic syndrome | 27.7% | 27.69% |
| - Mixt | 7.7% | 3.11% |
| - Gait predominant | 4.6% | 13.84% |
| Neuropathological study | 2 (no αsyn aggregates) | 5 (no αsyn aggregates) |