ArticleMolecular genetics & genomic medicine2020
Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 6 citations in OpenAlex.
- Genetic landscape of hereditary spastic paraplegias in the Korean population.Scientific reports · 2026Article
- Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.European journal of neurology · 2026Article
- Clinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature.BMC neurology · 2025Review
- Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
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Abstract
backgroundX-linked adrenoleukodystrophy (ALD) is one of the most common peroxisomal disorders characterized by abnormal accumulation of very long-chain fatty acids (VLCFA) in plasma and tissues and caused by mutations within ABCD1. Clinically, ALD present with various phenotypes, ranging from asymptomatic type to rapidly progressive childhood cerebral form. However, no remarkable abnormality in cerebral white matter usually makes it difficult to distinguish adult ALD from hereditary spastic paraplegia (HSP).
methodsWe analyzed the features of seven Chinese ALD patients who had a primary phenotype of spastic paraplegia. Sequencing was performed in the probands and their familial members. Detailed clinical, VLCFAs test, hormone test, magnetic resonance imaging, and electromyogram are presented.
resultsWe reported seven ALD patients from a Chinese cohort of 142 HSP patients. Genetic investigations revealed five known ABCD1 mutations (c.346G>C, c.521A>G, c.829G>T, c.1415_1416delAG, and c.1849C>T) and two novel mutations (c.454C>G, c.1452_1482del). Further auxiliary testing revealed that they had higher VLCFA and/or adrenal insufficiency.
conclusionsOur findings expand the mutation spectrum of ABCD1 and indicate that ALD represent a significant portion (4.9%, 7/142) of the spastic paraplegia entities. ALD should be considered in male patients with spastic paraplegia, even if there was no positive family history.
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