Table 1.

Clinical and genetic data of PKAN patients in this study.

Patient	Gender	Age	Age of onset	Diagnosis	BAD score	Age at BAD‐score	BAD/age	DNA mutation		Protein mutation
								Allele 1	Allele 2	Allele 1	Allele 2
P1	♂	21	2	classical	29	21	1,38	c.573del	c.1274T > C	S191fs	L425P
P2	♀	15	23	atypical	14	27	0,52	c.573del	c.863C > G	S191fs	P288R
P3	♂	25	1	classical	13	9	1,44	c.1561G > A	c.1561G > A	G521R	G521R
P4	♀	28	10	atypical	29	19	1,53	c.1660G > A	c.1660G > A	E554K	E554K
P5	♀	13	12	atypical	16	34	0,47	c.1369G > T	c.1561G > A	D457Y	G521R
P6	♂	23	3	classical	31	23	1,35	c.1660G > A	c.1660G > A	E554K	E554K
P7	♀	27	14	atypical	11	20	0,55	c.573del	c.863C > G	S191fs	P288R
P8	♀	22	11	atypical	11	13	0,85	c.1420‐1426del	c.1583C > T	N474fs	T528M
P9	♂	25	13	atypical	22	22	1,00	c.1561G > A	c.1583C > T	G521R	T528M
P10	♂	25	12	atypical	20	21	0,95	c.1561G > A	c.1583C > T	G521R	T528M
P11	♀	38	10	atypical	13	25	0,52	c.1583C > T	c.1235 + 5G>A	T528M	?
P12	♂	36	2	classical	9	11	0,82	c.833G > T	c.833G > T	R278L	R278L
P13	♂	11	2	classical	9	36	0,25	c.1583C > T	c.1583C > T	T528M	T528M
P14	♂	25	16	atypical	12	23	0,52	c.1583C > T	c.1583C > T	T528M	T528M

The DNA mutations refer to the NCBI Reference Sequence: NM_153638.3 (pantothenate kinase 2 mRNA transcript variant 1). The c.1235 + 5G > A mutation of patient P11 is located in the intron 5 bases downstream the splice site after exon 3 and changes the consensus sequence from GTAAGT to GTAAAT which likely results in improper splicing.