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The hippocampus enables abstract structure learning without reward
Onih A +4 more
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ABCD1 dysfunction alters white matter microvascular perfusion [PDF]
Brain, 2017 Cerebral X-linked adrenoleukodystrophy is a devastating neurodegenerative disorder caused by mutations in the ABCD1 gene, which lead to a rapidly progressive cerebral inflammatory demyelination in up to 60% of affected males. Selective brain endothelial dysfunction and increased permeability of the blood-brain barrier suggest that white matter ...
Florian S Eichler +2 more
exaly +4 more sources
JIMD Reports, 2018 Mutations in the ABCD1 gene that encodes peroxisomal ABCD1 protein cause X-linked adrenoleukodystrophy (X-ALD), a rare neurodegenerative disorder. More than 70% of the patient fibroblasts with this missense mutation display either a lack or reduction of ...
Kosuke Kawaguchi +2 more
exaly +2 more sources
Genes, 2021 X-linked adrenoleukodystrophy (X-ALD, OMIM #300100) is the most common peroxisomal disorder clinically characterized by two main phenotypes: Adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD). The disease is caused by
Stefano Amatori +2 more
exaly +2 more sources
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Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation
Journal of the Neurological Sciences, 2010X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, and clinical presentation as adult-onset spinocerebellar ataxia has been rarely reported. Here, we report a Taiwanese family with X-ALD. The proband, a 37-year-old man presented with dysarthria, cerebellar ataxia and mild spastic paraparesis, and had atrophy of ...
Jie-Yuan, Li +2 more
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De Novo ABCD1 Gene Mutation in an Indian Patient With Adrenoleukodystrophy
Pediatric Neurology, 2008A large number of ABCD1 gene mutations have been reported all over the world, but not previously in India. We report on the first known patient with childhood cerebral adrenoleukodystrophy and a de novo 3' splice-site mutation in this gene. Magnetic resonance imaging of the brain revealed large, confluent, hyperintense areas in the bilateral cerebral ...
Neeraj, Kumar +4 more
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Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleucodystrophy
Journal of Genetics, 2010gene in Indian population. The diagnosis was basedon clinical symptoms, substantial increase in plasma, verylong-chain fatty acids and typical MRI pattern. MRI of thepatient showed peritrigonal and cerebellar semioval whitematter hypodensities and hyperintense areas (T2/fluid atten-uated inversion recovery) in bilateral cerebral white mat-ter ...
Neeraj, Kumar +8 more
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A Novel ABCD1 Gene Mutation in a Chinese-Taiwanese Patient with Adrenomyeloneuropathy
Pediatric Neurology, 2007The ABCD1 gene mutation (previously ALD) has been reported in China, but not previously in Taiwan. This case report describes one Taiwanese patient whose clinical manifestations were compatible with adrenomyeloneuropathy. Direct sequencing for the ABCD1 gene of this patient and his mother detected a novel missense mutation, K513Q, in exon 6, the first ...
Yo-Tsen, Liu +4 more
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ABCD1 Gene Mutations in Chinese Patients With X-Linked Adrenoleukodystrophy
Pediatric Neurology, 2005X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the adrenoleukodystrophy (ALD) protein gene ABCD1. This study used direct sequencing of genomic polymerase chain reaction products to perform mutational analysis of ABCD1 in 34 unrelated Chinese X-linked adrenoleukodystrophy patients and 27 of their maternal relatives.
Hong, Pan +6 more
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