. 2020 May 22;21(10):3664. doi: 10.3390/ijms21103664

Table 1.

PKAN patients subjected to CT scan.

Patient’s Code (Sex)	PANK2 Mutations ^$ (cDNA)	PANK2 Mutations ^$ (Protein)	Date of CT Scan	Globi Pallida Calcifications	DBS	Date of Brain MRI	Age of Disease Onset
mt4245 (f)	c.[821_822delCT]; [1561G > A]	p.[Leu275Valfs*16]; [Gly521Arg]	2014	bilateral rock calcifications	DBS	2006; 2013	2 years
HA44 (f)	c.[1069C > T]; [1069C > T]	p.[Arg35Trp]; [Arg35Trp]	2013; 2015	bilateral rock calcifications	DBS	2008; 2009	24 years
HA143 (f)	c.[965A > G]; [1561G > A]	p.[Glu322Gly]; [Gly521Arg]	2015	bilateral rock calcifications	DBS	2006; 2015	16 years
HA31 (f)	c.[821_822delCT]; [del ex 1-4]	p.[Leu275Valfs*16]; [not translated]	2000	bilateral rock calcifications		2001; 2002	1 year
HA26 (m)	c.[1441C > T]; c.[966G > T]	p.[Arg481*]; p.[Glu322Asp]	2017	no calcifications		2014; 2015; 2017	17 years
HA35 (m)	c.[790C > T]; [790C > T]	p.[Arg264Trp]; [Arg264Trp]	2015	bilateral calcifications	NA	2008; 2009	NA
HA101 (f)	c.[1259delG]; [1259delG]	p.[Gly420Valfs30]; [Gly420Valfs30]	2007	bilateral calcifications		2007; 2008; 2009	4 years
HA102 (m)	c.[1259delG]; [1259delG]	p.[Gly420Valfs30]; [Gly420Valfs30]	2007	no calcifications		2007; 2008; 2009; 2013	7 years
HA134 (m)	c.[1499A > T]; [621-1G > A]	p.[Asn500Ile]; ?	2008	no calcifications		2004; 2008	2 years
mt4597 (m)	c.[683T > C]; [683T > C]	p.[Phe228Ser]; [Phe228Ser]	2013	no calcifications	DBS	2006; 2008; 2011	2 years
HA167 (m)	c.[821_822delCT]; [965A > G]	p.[Leu275Valfs*16]; [Glu322Gly]	2011	no calcifications		2009; 2010; 2011	9 years
HA316 (f)	c.[821_822delCT]; [1441C > T]	p.[Leu275Valfs16]; [Arg481]	2015	bilateral slight calcifications		2005 (normal); 2007 (pathological iron); 2013	18 months
HA185 (f)	c.[36T > A]; [137A > T]	p.[His12Gln]; [Asp46Val]	2010	no calcifications		2010; 2011; 2012; 2015; 2019	12 years
BDM862 (f)	c.[1236-1G > A]; [1561G > A]	p.?;[Gly521Arg]	2015; 2017	no calcifications		2015; 2016	5 years
LDM709 (m)	c.[982-1G > A]; [1561G > A]	p.?;[Gly521Arg]	2019	no calcifications		2017; 2019	8 years

Patients identified by code, sex and mutations. Calcification, deep brain stimulation (DBS), date of CT scan and brain MRI, and age of onset are indicated. ^$ Following the HGVS-nomenclature [20], PANK2 reference sequence NM_153638. ? = unknown effect of the mutation on the protein.