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X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism
Molecular Genetics and Metabolism, 2011X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting adrenal glands, testes and myelin stability that is caused by mutations in the ABCD1 (NM_000033) gene. Males with X-ALD may be diagnosed by the demonstration of elevated very long chain fatty acid (VLCFA) levels in plasma. In contrast, only 80% of female carriers have
Ying, Wang +18 more
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Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype
Parkinsonism & Related Disorders, 2021Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by mutations in the ABCD1 gene. The clinical manifestations of ALD vary widely with some patients presenting with adrenomyeloneuropathy (AMN) that resembles the phenotype of hereditary spastic paraplegia (HSP).
Shao-Lun, Hsu +7 more
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Novel
ABSTRACTX‐linked adrenoleukodystrophy (X‐ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. We reported the clinical features and genetic findings of 17 X‐ALD patients. Fifteen variants were identified, including five novel mutations: c.700dupC (p.Arg234Profs*67), c.743G>A (p.Gly248Asp), c.1469_1471delTGG (p.Val490del), c ...
Sen‐Wei Dong +8 more
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Journal of Clinical Neuroscience, 2017
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is the consequence of mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids. We describe a family with six members carrying a novel heterozygous mutation IVS4+
Margoni, M +5 more
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X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is the consequence of mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids. We describe a family with six members carrying a novel heterozygous mutation IVS4+
Margoni, M +5 more
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Molecular analysis of ABCD1 gene in Indian patients with X-linked Adrenoleukodystrophy
Clinica Chimica Acta, 2011X-linked Adrenoleukodystrophy (X-ALD), with an incidence of 1:14,000 is the most frequent monogenic demyelinating disorder worldwide. The principal biochemical abnormality in X-ALD is the increased levels of saturated, unbranched very long chain fatty acids (VLCFA). It is caused by mutations in ABCD1 gene.
Pallavi, Shukla +8 more
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Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier
Gene, 2013Progressive dementia is a rare phenotypic feature of female X-ALD carriers. Even rarer is the additional presence of further risk factors for dementia, such as diabetes, hypothyroidism, and hepatopathy. We report a unique female X-ALD carrier presenting with severe, progressive dementia, paraspasticity, sphincteric dysfunction, and multisystem disease ...
Josef, Finsterer +2 more
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Targeting ABCD1-ACOX1-MET/IGF1R axis suppresses multiple myeloma
LeukemiaMultiple myeloma (MM) remains an incurable hematological malignancy that necessitates the identification of novel therapeutic strategies. Here, we report that intracellular levels of very long chain fatty acids (VLCFAs) control the cytotoxicity of MM chemotherapeutic agents.
Zhannan Han +16 more
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