Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease

Table 1 Clinical and molecular data of 20 LOPD patients

Pat.-Nr.	Sex	GAA-Genotype		Age [years]	Duration disease (years)	Duration ERT (month)	Cardio-vascular risk factors
P1^a	F	IVS1 (− 13 T > G)	IVS9 G > C)	26	15	67	HL
P2	F	p.L552P	p.P493L	37	10	33	HL, O
P3^a	M	IVS1 (−13 T > G)	c.2136-7delGT	50	40	116	HYP, HL
P4^a	M	IVS1 (−13 T > G)	p.W499R	50	18	130	DM, HL
P5^a	M	IVS1 (−13 T > G)	p.P493L	52	15	63	HYP, HL
P6^a	F	IVS1 (−13 T > G)	p.L552P	53	17	99	HYP, HL, O, S
P7^a	M	IVS1 (−13 T > G)	p.C103G	59	14	135	HYP, DM, HL, O
P8^a	F	IVS1 (−13 T > G)	p.P493L	61	21	63	HYP, HL
P9	M	IVS1 (−13 T > G)	p.G309R	64	11	14	HYP, DM, O
P10^a	F	IVS1 (−13 T > G)	del exon 18	75	40	103	HYP
P11	M	IVS1 (−13 T > G)	c.832delC	45	6	17	HYP, HL
P12	F	IVS1 (−13 T > G)	c.525delT	66	7	33	HYP, HL
P13	M	IVS1 (−13 T > G)	IVS1 (−13 T > G)	61	13	29	HYP, HL
P14	F	IVS1 (−13 T > G)	c.2481 + 102_2646 + 31del	54	18	44	HYP, HL
P15	F	IVS1 (−13 T > G)	c.2481 + 102_2646 + 31del	56	19	48	HYP, HL
P16^a	F	IVS1 (−13 T > G)	c307 T > G	49	23	119	HL
P17	M	IVS1 (−13 T > G)	p.G309R	81	6	37	HYP, HL
P18	M	IVS1 (−13 T > G)	c.794delG	49	13	84	NONE
P19	F	IVS1 (−13 T > G)	c.925G > A	61	2	9	HYP
P20	M	IVS1 (−13 T > G)	c.525delT	19	19	132	NONE

Patient P1-P10 were numbered according to their number in the previous study by Hensel et al. [7]. P5 + P8 and P14 + 15 were siblings; a patients with 5 years follow-up; Abbr.: ERT enzyme replacement therapy, GAA Glucosidase alpha gene. Risk factors: DM diabetes mellitus, HL hyperlipidemia, HYP Hypertension, O obesity, S smoking

ISSN: 1750-1172