FA2H and fatty acid hydroxylase-associated neurodegeneration: The other two variants, p.Arg127Ter and p.Leu179Argfs*62, predictively cause protein truncation, leading to loss of the transmembrane domain and the fatty acid hydroxylase domain, which in turn may result in disruption of fatty acid alpha-hydroxylase activity of FA2H.<h4>Conclusion</h4>Our study identifies novel variants associated with FA2H in FAHN patients, highlighting their possible roles in iron binding and in the loss of the transmembrane and catalytic domains.