TABLE 1.

Summary of known neurodegenerative genetic disorders that impact PE homeostasis by downregulating a major biosynthetic pathway.

Disease name	OMIM #	Gene	Variants	Pathway	Impact on PE
Spastic paraplegia 81	618768	SELENOI	c.335G-C (25). c.732-2A-G (25).	CDP-Etn (Kennedy)	∼60% decrease in PE synthesis through CDP-Etn pathway (24).
Spastic paraplegia 82	618770	PCYT2	c.920C-T (8). P307L (8). c.730C-T (8).	CDP-Etn (Kennedy)	∼25% decrease in total cellular PE (8).
CONATOC	618868	SLC44A1	c.1549del (9). c.377_380del (9). 29-KB del (9).	CDP-Etn (Kennedy)	∼5% decrease in PE as% of total glycerolipids (9).
Liberfarb syndrome	618889	PISD	c.697 + 5G-A (10). c.830G-A (10). c.904-12_904-3delCTATCACCAC (11). c.797G-A (136).	PSD	50% decrease in PE synthesis through PSD pathway (10).
Lenz-Majewski syndrome	151050	PTDSS1	c.805C-T (137). c.749T-C (137). c.1058A-G (137).	Head-group base exchange	No observed difference in phospholipid levels (137).