Table 1.
Clinical Features of Patients with Mutations
| Patient | 2035-21 | 2035-23 | 2035-46 | 2035-49 | 2035-76 | 2035-112 | 2035-43 |
|---|---|---|---|---|---|---|---|
| Gene | PRKN | PRKN | PRKN | PRKN | PRKN | PINK1 | LRRK2 |
| Mutation | W54R | 255Adel | T240M | P253R | 255Adel | Ex7 del | Q923H |
| V3I | Dup exon5 | T240M | Ex7 del | ||||
| Gender | Male | Female | Male | Male | Male | Female | Female |
| Current Age | 54 | 52 | 38 | 46 | 64 | 43 | 51 |
| Age et Onset | 40 | 40 | 33 | 40 | 22 | 24 | 46 |
| First symptom | Bradikynesia | Lower limb tremor | Tremor | Bradikynesia | Tremor | Tremor | Tremor |
| Follow up (years) | 7 | 7 | 2 | 4 | 11 | 14 | 2 |
| Family History | Negative | Negative | negative | negative | negative | negative | Positive (father and one brother) |
| UPDRS –III (On) | 50 | 12 | 17 | 54 | 36 | 10 | 52 |
| Progression rate (on motor score/year) | +2.5/year | +0.3/year | +1/year | +4/year | +0.8/year | +0.5/year | +5/year |
| Type | Rigid-akinetic | Tremor-dominant | Tremor-dominant | Rigid-akinetic | Tremor-dominant | Tremor-dominant | Rigid-akinetic |
| Neuroimaging | Normal CT scan | Normal MRI | Normal MRI | Normal CT scan | Normal CT scan | Normal MRI | Normal MRI |
| Time for ldopa use (from the first symptom) | 5 years | * | * | 1 year | 15 years | 6 years | 4 years |
| Time to develop dyskinesias | 2 years | ------ | ------- | 4 years | 1 year | 7 years | -------- |
| Dyskinesias – (UPDRS score) | 1-1-2-0 | 0 | 0 | 1-0-0-0 | 1-2-2-1 | 1-0-0-0 | 0 |
| Surgery | No | No | No | No | Palidotomy | No | No |
| Psychiatric Symptoms | None | Generalized Anxiety Disorder | Depression | Anxiety | None | Anxiety | Depression |
*
Patients not treated with Ldopa