Adrenoleukodystrophy (ALD) is an X-linked disease that affects primarily the white matter of the central nervous system and adrenal cortex. A correlation between genotypes and phenotypes has not been observed. Here, we present two Japanese siblings with a novel missense variant (c.1887T > G) in the ABCD1 gene who presented with different clinical phenotypes, i.e., adolescent cerebral and cerebello-brainstem types. We also review the literature focusing on the variation in the clinical phenotypes within ALD families. In our review, 61.9% of sibling pairs presented with the same clinical type of ALD and 59.1% of sibling pairs presented with a similar age of onset. Conversely, 15.4% of sibling pairs had a similar age of onset, but different clinical types of ALD. To observe the correlation between genotypes and phenotypes, it is important to diagnose early and to accumulate reports describing age of onset, first onset symptom, and progression of the symptom.

肾上腺脑白质营养不良 (ALD) 是一种 X 连锁疾病，主要影响中枢神经系统和肾上腺皮质的白质。尚未观察到基因型和表型之间的相关性。在这里，我们展示了两个日本兄弟姐妹，它们在ABCD1 中有一个新的错义变体（c.1887T > G）具有不同临床表型的基因，即青少年脑型和小脑-脑干型。我们还回顾了关注 ALD 家族内临床表型变异的文献。在我们的审查中，61.9% 的同胞对出现相同的 ALD 临床类型，59.1% 的同胞对出现相似的发病年龄。相反，15.4% 的兄弟姐妹的发病年龄相似，但 ALD 的临床类型不同。为了观察基因型和表型之间的相关性，重要的是早期诊断并积累描述发病年龄、首发症状和症状进展的报告。