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Background <p>Adrenomyeloneuropathy (AMN), an adult-onset form of X-linked adrenoleukodystrophy (X-ALD), is caused by pathogenic mutations in <i>ABCD1</i> gene.</p> Case <p>We reported a 60-year-old Chinese male with 15-year chronic progressive spastic paraplegia without symptoms suggesting adrenal insufficiency.</p> Results <p>Critical findings included abnormal plasma very long-chain fatty acids (VLCFAs), slightly elevated ACTH, and a novel pathogenic ABCD1 mutation (c.172_198delinsACGCAGGA, p.Ser58Thrfs*4) confirmed by genetic testing, which established the AMN diagnosis.</p> Conclusion <p>Our case underscores that VLCFA analysis combined with <i>ABCD1</i> sequencing is essential for diagnosing AMN in adult-onset spastic paraplegia and further illustrates the phenotypic heterogeneity and imperfect genotype-phenotype correlation in X-ALD via this severe truncating mutation with benign late-onset presentation.</p>

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A novel ABCD1 frameshift mutation detected in a Chinese male with adrenomyeloneuropathy

  • 期刊论文

  • 发表日期：

    2026年6月22日

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  • Cong Zhao,
  • Yanran Li,
  • Tao Tao,
  • Ying Zhang,
  • Guangyun Zhang,
  • Fen Yang

摘要

Background

Adrenomyeloneuropathy (AMN), an adult-onset form of X-linked adrenoleukodystrophy (X-ALD), is caused by pathogenic mutations in ABCD1 gene.

Case

We reported a 60-year-old Chinese male with 15-year chronic progressive spastic paraplegia without symptoms suggesting adrenal insufficiency.

Results

Critical findings included abnormal plasma very long-chain fatty acids (VLCFAs), slightly elevated ACTH, and a novel pathogenic ABCD1 mutation (c.172_198delinsACGCAGGA, p.Ser58Thrfs*4) confirmed by genetic testing, which established the AMN diagnosis.

Conclusion

Our case underscores that VLCFA analysis combined with ABCD1 sequencing is essential for diagnosing AMN in adult-onset spastic paraplegia and further illustrates the phenotypic heterogeneity and imperfect genotype-phenotype correlation in X-ALD via this severe truncating mutation with benign late-onset presentation.