Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
A novel ABCD1 frameshift mutation detected in a Chinese male with adrenomyeloneuropathy.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Zhao Cong, Li Yanran, Tao Tao, Zhang Ying, Zhang Guangyun, Yang Fen
Аннотация
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.
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.