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Table 1 Clinical and genetic characteristics of the patients

From: Pilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: a single-arm, open-label study

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

  1. M:male, F female, LOA loss of independent ambulance, DLL dystonia in lower limbs, DUL dystonia in upper limbs, BS bulbar symptoms,
  2. “-”:not identified,“/”: no medication was taken at baseline, the transcript ID is NM_153638