Patient ID | Sex | Age at enrollment (years) | Age at onset (years) | Symptoms at W-24 | Symptoms at W0 | Baseline medication | Mutation in PANK2 | |
---|---|---|---|---|---|---|---|---|
Change of nucleotide | Change of amino acid | |||||||
01 | M | 10.0 | 8.0 | DUL,DLL | DUL,DLL | Levodopa, Baclofen | c.970G>T/c.970G>T | p.D324Y/ p.D324Y |
02 | F | 12.6 | 1.5 | DUL,DLL, BS | DUL,DLL, BS | / | c.790C>T/− | p.R264W/ - |
03 | M | 11.8 | 1.5 | DUL,DLL, BS | DUL,DLL, BS, LOA | Trihexyphenidyl hydrochloride | c.1355A>G/c.1555 T>C | p.D452G/ p.F519L |
04 | F | 7.9 | 7.1 | DUL,DLL | DUL,DLL | Levodopa, Baclofen | c.856 C>T/c. 1502 T>A | p.R286C/p.I501N |
05 | F | 8.9 | 4.0 | DUL,DLL, BS | DUL,DLL, BS | / | c.1324G>T/c.1324G>T | p.D442Y/p.D442Y |
06 | M | 9.0 | 2.0 | DUL,DLL, BS, LOA | DUL,DLL, BS, LOA | Baclofen, Clonazepam, Amantadine, Clozapine Trihexyphenidyl hydrochloride | c.650A > G/c.1341 T > G | p.D217G/ p.D447E |
07 | M | 10.2 | 7.8 | DUL,DLL, BS | DUL,DLL, BS | Trihexyphenidyl hydrochloride, Baclofen | c.1502 T > A/c.833G > A | p.I501N/p.R278H |
08 | M | 3.5 | 1.6 | DUL,DLL | DUL,DLL | Trihexyphenidyl hydrochloride, Baclofen | c.1355A > G/c.1355A > G | p.D452G/ p.D452G |
09 | F | 12.3 | 6.0 | DUL,DLL | DUL,DLL | / | c.981 + 3A > G/ c.970G > T | Splice/p.D324Y |
10 | F | 13.6 | 1.5 | DUL,DLL, BS, LOA | DUL,DLL, BS, LOA | Baclofen, Tiapride, Levodopa, Trihexyphenidyl hydrochloride | c.595C>T/c.1351C>T | p.Q199X/p.R451X |
11 | F | 10.3 | 5.0 | DUL,DLL, BS | DUL,DLL, BS | Trihexyphenidyl hydrochloride, Clonazepam | c.1213 T>C/ c.510-522del | p.Y405H/p.A170Afs*31 |
12 | F | 8.3 | 2.0 | DUL,DLL, BS | DUL,DLL, BS | Trihexyphenidyl hydrochloride, Baclofen, Levodopa | c.1355A>G/c.1355A>G | p.D452G/p.D452G |
13 | M | 4.5 | 1.0 | DUL,DLL, BS, LOA | DUL,DLL, BS, LOA | Levodopa, Clonazepam | c.1351C>T/c.1355A>G | p.R451X/p.D452G |
14 | M | 5.6 | 2.0 | DUL,DLL, BS | DUL,DLL, BS | / | c.644-645delGAinsAT/c.1151C>G | p.D215delIinsD/p.P384R |
15 | F | 10.1 | 3.0 | DUL,DLL | DUL,DLL, LOA | Trihexyphenidyl hydrochloride | c.1082A>G/ c.1355A>G | p.Y361C/p.D452G |