Phenotypes and Genotypes of Patients with Pantothenate Kinase-Associated Neurodegeneration in Asian and Caucasian Populations: 2 Cases and Literature Review

Table 1

Clinical features and genetic mutations in Asian patients with PKAN.

Patient

Category

Onset; age/sex

Cognitive; decline

Bulbar; signs

Gait; disturbance

Dystonia

Tremor

Parkinsonism

Chorea

Pyramidal signs

Eye-of-the-tiger on MRI

PANK2 mutation

Reference

1

Atypical

23/M

N

D

Y

S; C

Y

Y

N

N

Y

Unknown

Our patient 1

2

Atypical

17/M

N

N

N

S; C

Y

N

N

N

Y

I349X

Our patient 2

3

Atypical

46/M

Y

D

Y

S; C

Y

N

N

N

Y

D378G/D452G

Wu et al. [20]

4

Atypical

51/M

N

N

Y

S; C

Y

Y

N

N

N

D378G/D452G

Wu et al. [20]

5

Atypical

17/M

N

D

N

S; C

Y

Y

N

N

Y

D378G/I501N

Zhang et al. [22, 25]

6

Atypical

35/M

N

D

Y

C

Y

Y

N

N

Y

D378G/ R440P L385fsX11

Seo et al. [17]

7

Atypical

48/M

N

N

N

N

Y

N

N

N

Y

L385fsX11/R440P

Yoon et al. [21]

8

Atypical

21/M

N

N

N

S

N

N

N

N

Y

K335E

Chung et al. [12]

9

Atypical

29/M

N

N

Y

S

Y

N

N

Y

Y

D378G, L425del

Lyoo et al. [14]

10

Atypical

28/M

N

D; d

N

N

Y

Y

N

N

Y

I346S

Doi et al. [8]

11

Atypical

35/F

N

N

N

S

N

N

Y

N

Y

I346S

Doi et al. [8]

12

Atypical

18/F

N

N

Y

N

Y

N

N

Y

Y

N355S

Yamashita et al. [10]

13

Classic

9/F

Y

N

Y

N

N

Y

N

Y

Y

Unknown

Saito et al. [16]

14

Classic

8/M

Y

D

Y

C

N

N

Y

N

N

Unknown

Saito et al. [16]

15

Classic

4/M

N

D; d

Y

G

N

N

Y

N

Y

Unknown

Koyama and Yagishita [9]

16

Classic

9/M

Y

D

Y

N

N

N

N

Y

N

Unknown

Wakabajashi et al. [19]

17

Classic

6/M

N

D; d

N

G

N

N

N

Y

Y

Unknown

Tsukamoto et al. [18]

18

Classic

2/M

N

D; d

Y

G

Y

N

Y

Y

Y

Unknown

Ou et al. [15]

19

Classic

10/M

N

D

Y

G; C

N

N

Y

N

Y

P464L

Chan et al. [11]

20

Classic

2.5/F

N

D; d

Y

G

Y

N

N

N

Y

Unknown

Chan et al. [11]

21

Classic

10/M

Y

D; d

Y

G

N

N

N

Y

Y

Unknown

Fung and Chan [13]

PKAN: pantothenate kinsase-associated neurodegeneration; M: male; F: female; Y: yes; N: no; D: dysarthria; d: dysphagia; G: generalized; S: segmental; C: cranial.