Astrocytic pathology in Alpers’ syndrome

Table 1 Alpers’ syndrome patient cohort

Patient:	Sex:	Age at onset:	Age at death:	Bi-allelic pathogenic POLG variants:		Publications:
Patient:	Sex:	Age at onset:	Age at death:	cDNA	Protein
Pt.01^†	M	2 m	5.5 m	Unknown	Unknown	[18, 19]
Pt.02^†	M	4 m	13 m	Unknown	Unknown	[18, 19]
Pt.03	F	11 m	14 m	c.1399G > A/ c.2542G > A	p.[Ala467Thr]/ p.[Gly848Ser]	[18, 19]
Pt.04^†	M	6 m	17 m	Unknown	Unknown	[19]
Pt.05^†	F	12 m	18 m	Unknown	Unknown	[19]
Pt.06^†	M	18 m	2.8 y	Unknown	Unknown	[19]
Pt.07	F	6 m	7 y	c.2243G > C/ c.2243G > C/	p.[Trp748Ser]/ p.[Trp748Ser]	[18, 19, 34]
Pt.08	M	2 y	11.9 y	c.1399G > A/ c.2542G > A	p.[Ala467Thr]/ p.[Gly848Ser]	[19]
Pt.09^†	M	6 y	12.5 y	Unknown	Unknown	[18, 19]
Pt.10^†	F	6 m	14 y	Unknown	Unknown	[18, 19]
Pt.11	F	18 y	23 y	c.1399G > A/ c.1399G > A	p.[Ala467Thr]/ p.[Ala467Thr]	[19, 35]
Pt.12	F	20 y	24 y	c.1399G > A/ c.2243G > C	p.[Ala467Thr]/ p.[Trp748Ser],	[19, 20, 22, 36,37,38,39)
Pt.13	F	16 y	28 y	c.1399G > A/ c.2243G > C	p.[Ala467Thr]/ p.[Trp748Ser]	[19]

Abbreviations: m months; y years; F female; M male. Clinical and neuropathological details for the patients with Alpers’ syndrome (Pt.01 – Pt.10) and adult patients with POLG-related encephalopathy (Pt.11 – P13) are summarised in [19]. Historical patients (†) remain without a molecular diagnosis since they precede identification of pathogenic POLG variants known to cause Alpers’ syndrome and extraction of DNA from FFPE tissues to sequence POLG was unsuccessful. POLG RefSeq: NM_002693

ISSN: 2051-5960