An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

For the nonether lipids, DG levels appeared lower and total TG levels showed a trend to higher values in patients (both not significant).

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There was a trend toward increased levels of (lyso)plasm(a/e)nylethanolamine ether phospholipid species (PE[O] and LPE[O]) but this did not reach statistical significance due to variation in the different patients’ cells (Fig. 4a, b ).

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