Clinical Study
Nonmotor Symptoms in Patients with PARK2 Mutations
Table 1
Clinical findings and medication of patients with PARK2 mutation.
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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 | − | − |
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DID: dopa induced dyskinesia.
*UPDRS mean score **Thalamotomy ***no medication.
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