Results 141 to 150 of about 2,524,227 (174)

Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation

Journal of the Neurological Sciences, 2010
X-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 ...
Ching-Shiang Chi, Chia-Chi Hsu
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De Novo ABCD1 Gene Mutation in an Indian Patient With Adrenoleukodystrophy

Pediatric Neurology, 2008
A 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, Pallavi, Shukla, Krishna K, Taneja, Veena, Kalra, Surendra K, Bansal   +4 more
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Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleucodystrophy

Journal of Genetics, 2010
gene 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, Krishna K, Taneja, Atul, Kumar, Deepti, Nayar, Bhupesh, Taneja, Satindra, Aneja, Madhuri, Behari, Veena, Kalra, Surendra K, Bansal   +8 more
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A Novel ABCD1 Gene Mutation in a Chinese-Taiwanese Patient with Adrenomyeloneuropathy

Pediatric Neurology, 2007
The 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, Kang-Hsu, Lin, Bing-Wen, Soong, Kwong-Kum, Liao, Kon-Ping, Lin   +4 more
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ABCD1 Gene Mutations in Chinese Patients With X-Linked Adrenoleukodystrophy

Pediatric Neurology, 2005
X-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, Hui, Xiong, Ye, Wu, Yue-Hua, Zhang, Xin-Hua, Bao, Yu-Wu, Jiang, Xi-Ru, Wu   +6 more
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A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy

Journal of Pediatric Endocrinology and Metabolism, 2015
AbstractX-linked adrenoleukodystrophy (X-ALD) (OMIM: 300100) is a recessive neurodegenerative disorder caused by defects in theWe describe an affected boy who developed normally until he was 8 years old then suffered progressive neurological deficits that ultimately led to death.Diagnosis was based on clinical symptoms, an abnormal very long chain ...
Yan-na, Cai, Min-yan, Jiang, Cui-li, Liang, Min-zhi, Peng, Jing, Cheng, Hui-ying, Sheng, Li-ping, Fan, Xi-qing, Chen, Li, Liu   +8 more
exaly   +3 more sources

Molecular analysis of ABCD1 gene in Indian patients with X-linked Adrenoleukodystrophy

Clinica Chimica Acta, 2011
X-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, Neerja, Gupta, Sheffali, Gulati, Manju, Ghosh, Suman, Vasisht, Raju, Sharma, Arun K, Gupta, Veena, Kalra, Madhulika, Kabra   +8 more
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Multiple Endocrine Disorders Associated With Adrenomyeloneuropathy and a Novel Mutation of the ABCD1 Gene

Pediatric Neurology, 2014
X-linked adrenomyeloneuropathy (X-AMN) is a genetic disorder that primarily affects the adrenal cortex and the nervous system. The disease shows a wide range of phenotypic expression, age of onset, and rate of progression.We present a thalassemic 23-year-old man with X-AMN and multiple endocrine disorders.
Panagiota, Triantafyllou, Marina, Economou, Euthymia, Vlachaki, Maria, Aggelaki, Miranta, Athanassiou-Mataxa, E, Michelakaki, Dimitrios I, Zafeiriou   +6 more
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Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP

Human Genetics, 2001
A variety of mutations have been identified in the X-linked adrenoleukodystrophy (X-ALD) gene, none of which is prevalent. In this work we describe a reverse transcription polymerase chain reaction (RT-PCR)-based strategy specially suited to the molecular characterisation of mutations in index cases. After RT-PCR amplification of the X-ALD transcript a
C P, Guimarães, M, Lemos, I, Menezes, T, Coelho, C, Sá-Miranda, J E, Azevedo   +5 more
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