Table 1.
Clinical findings and medication of patients with PARK2 mutation.
| Case | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age sex | 71 F | 55 M | 46 M | 41 F | 38 M | 36 F | 76 M | 70 M | 63 M | 61 F | 61 F | 60 F | 57 M | 44 F |
| Parkin | exon 2–4 homo deletion | exon 5 homo deletion | exon 6, 7 homo deletion | exon 6 hetero deletion | exon 4, intron 4 accepter site, A→G | exon 10 hetero mutation | exon 10 hetero mutation | exon 2 homodeletion | exon 2, 3, 4 hetero deletion | exon 2, 3 hetero deletion | exin 4 hetero deletion | exon 3, 4 hetero deletion | exon 2, 3, 4 homodeletion | exon 5 hetero deletion |
| On set | 61 | 28 | 28 | 27 | 18 | 20 | 65 | 45 | 33 | 29 | 47 | 16 | 45 | 34 |
| Disease duration | 10 | 27 | 18 | 14 | 20 | 16 | 11 | 28 | 36 | 34 | 14 | 44 | 12 | 10 |
| Family history | − | + | + | − | − | + | + | − | − | + | − | + | + | + |
| Hoehn & Yahr stage on |
2 | 2 | 2 | 1 | 1.5 | 2 | 2 | 3 | 3 | 3 | 3 | 3 | 1 | 1 |
| Rigidity* | 1 | 1 | 0 | 1 | 2 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
| Tremor* | 1 | 0 | 0 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| Hesitation* | 0 | 1 | 1 | 0 | 0 | 2 | 0 | 1 | 1 | 2 | 2 | 1 | 0 | 0 |
| Wearing-off | + | + | + | − | + | + | − | + | + | + | + | − | + | − |
| Dementia | − | − | − | − | − | +** | − | − | − | − | − | − | − | − |
| Hallucination | − | − | − | − | − | + | − | − | − | − | + | − | − | − |
| Sleep violent behavior | − | − | − | − | − | − | − | − | − | − | − | − | − | − |
| Constipation | +*** | − | − | − | − | − | − | − | − | − | + | − | − | − |
| Levodopa | 700 mg | 600 mg | 600 mg | 300 mg | 400 mg | 300 mg | − | 300 mg | 500 mg | 995 mg | 800 mg | 200 mg | 450 mg | − |
| Agonist non-ergot |
pramipexole 1.5 mg | pramipexole 4.5 mg | pramipexole 3 mg | ropinirole 9 mg | pramipexole 1.5 mg | ropinirole 12 mg | pramipexole 4.5 mg | − | pramipexole 0.75 mg | pramipexole 1.5 mg | pramipexole 2.25 mg | ropinirole 16 mg | − | pramipexole 1.5 mg |
| Agonist ergot | − | pergolide 2.25 mg | − | − | cabergoline 4 mg | − | − | − | − | − | − | − | cabergoline 2 mg | − |
| Selegiline | − | 5 mg | − | − | 10 mg | 5 mg | − | − | − | − | 5 mg | − | 2.5 mg | − |
| Entacapone | − | 400 mg | 600 mg | − | 300 mg | 600 mg | − | − | 400 mg | − | − | − | − | − |
| Trihexyphenidyl | − | − | − | − | 3 mg | − | − | 5 mg | − | − | − | − | − | − |
| Amantadine | 300 mg | 150 mg | 300 mg | − | 300 mg | − | − | − | 150 mg | 200 mg | 100 mg | 300 mg | − | − |
DID: dopa induced dyskinesia.
*UPDRS mean score **Thalamotomy ***no medication.