In this study, we report two unpublished pathogenic variants in the ABCD1 gene: (i) Variant c.253delC [p.Arg85Glyfs*18] in exon 1, found in a 10-year-old boy with progressive cerebral X-ALD phenotype and his 17-year old brother with an early onset AMN phenotype; and (ii) Variant c.1275delA [p.Phe426Leufs*15] in exon 4, diagnosed in a 26-year-old male leading to AMN and in his 6-year-old nephew with primary adrenal insufficiency. This evidence concerns the gene ABCD1 and adrenomyeloneuropathy.