Table 1. Summary of patients demography, main clinical profile, level of severity/impairment, genetics data, treatment duration and response.
| Patient | Current age | Age of onset | Core Symptoms | Neuroimaging pattern | Clinical self accessment | Genetic analysis (Gene/mutation) | Treatment duration/follow up |
|---|---|---|---|---|---|---|---|
| 1 | 57 (deceased) | 46 | Severe motor and language impairment | Large calcifications in cerebellum, thalamus, basal ganglia and white matter | Stable | PDGFB c.356 T > C | 3 months |
| 2 | 49 | 44 | Moderate Parkinsonism | Large calcifications in cerebellum and basal ganglia | Gradual impairment | NA | 9 months |
| 3 | 48 | 29 | Parkinsonism Depression | Large calcification in thalamus and basal ganglia | Gradual impairment | SLC20A2 c.1483G > A | 24 months |
| 4* | 85 | 80 | Depression | Large calcificiation in cerebellum and basal ganglia | Symptoms stability | SLC20A2 c.1483G > A | 120 months |
| 5 | 38 | 37 | Headaches Right arm tremor | Moderate calcification in basal ganglia | Decrease in arm paresis and tremor | SLC20A2 c.1753G > A | 5 months |
| 6* | 51 | 36 | Headaches | Small calcifications in basal ganglia | Symptoms stability | NA | 28 months |
| 7 | 41 | 38 | Headaches | Large calcification in basal ganglia and smaller lesion in thalamus, white matter and cerebellum | Remarkable decrease in number of episodes. | NA | 20 months |
For comparative reasons, the patients will be presented orderly, from the most critical (Up row) to the most functional one (bottom row), in terms of personal impairment. NA = Not available. *patients with retrospective data.