A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family [PDF]
Brain and Behavior, 2019 Adrenomyeloneuropathy (AMN) is a rare genetic disease. In this study, a case of AMN was uncovered in a Chinese family.
Bing Han, Jingyao Liu
exaly +7 more sources
Segmental Optic Atrophy with Adrenoleukodystrophy ABCD1 Gene Variant
International Journal of Medical Science and Clinical Research Studies, 2023 We report a case of Adrenoleukodystrophy ABCD1 gene variant presenting with segmental optic atrophy in a 34-year-old male. The patient presented to our Neuro-Ophthalmology clinic with complaints of defective vision in both eyes, mild headache and ...
Khishigdelger Erdenechuluun +3 more
core +5 more sources
A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia. [PDF]
Front Neurol, 2018 X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients.
Chen Y, Zhang J, Wang J, Wang K.
europepmc +7 more sources
Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene [PDF]
Annals of Clinical Neurophysiology, 2021 Adrenoleukodystrophy (ALD) is the most common peroxisomal disorder caused by mutations in the gene, ABCD1, causing abnormal accumulation of very-long-chain fatty acids in the nervous system and adrenal glands. There are various clinical manifestations of
이은재 +6 more
core +3 more sources
ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series. [PDF]
Endocrinol Diabetes Metab Case Rep, 2021 Summary Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in the ABCD1 gene, located on the X-chromosome (Xq28). Gene mutations in patient with adrenoleukodystrophy induce metabolic alterations characterized by impaired
Mohn A +6 more
europepmc +7 more sources
Progressive Cognitive and Behavioral Changes With Leukodystrophy due to ABCD1 Gene Mutation. [PDF]
Dement Neurocogn Disord, 2022 Adrenoleukodystrophy (ALD) is caused by a mutation in the ABCD1 gene, which is located on the X-chromosome (Xq28).1 Peroxisomal dysfunction leads to accumulation of very long-chain fatty acids (VLCFA) in adrenal glands and peripheral white matter of the ...
Park J +5 more
europepmc +4 more sources
X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients. [PDF]
PLoS ONE, 2012 X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease associated with mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP.
Helena Myskóva +17 more
core +8 more sources
A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification. [PDF]
Front GenetAdrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Shi X, Qi X, Zheng J, Ma J, Li D.
europepmc +5 more sources
A Novel Missense Variant of the ABCD1 Gene in X-Linked Adrenoleukodystrophy in Chinese Family. [PDF]
Mol Genet Genomic MedWe identified a novel ABCD1 variant (c.773T>G, p.Leu258Arg, NM_000033.4) in a Chinese pedigree affected by X‐linked adrenoleukodystrophy (X‐ALD). This missense variant in exon 1 is predicted to be pathogenic and likely constitutes the genetic basis of ...
Fu H, Han L, Liu X, He B, He P, Hu J.
europepmc +5 more sources
A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report. [PDF]
Medicine (Baltimore), 2018 Rationale: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, which is inherited as an X-linked recessive trait. ATP binding cassette subfamily D member 1 (ABCD1) localized to Xq28 is the only gene associated with ALD. Patient
Wang J, Zhu Q, Liu H.
europepmc +4 more sources