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.