Adrenomyeloneuropathy
Mostrando 1-10 de 10 artigos, teses e dissertações.
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1. X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
RESUMO Objetivo: Descrever pacientes com diferentes formas de adrenoleucodistrofia ligada ao X: pré-sintomática, adrenoleucodistrofia inflamatória desmielinizante cerebral, adrenomieloneuropatia e insuficiência adrenal primária. Métodos: Dados específicos relacionados a epidemiologia, fenótipo, diagnóstico e tratamento de 24 pacientes com adreno
Rev. paul. pediatr.. Publicado em: 19/06/2019
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2. Severity score system for progressive myelopathy: development and validation of a new clinical scale
Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. Our objective is to propose and validate a new scale addressing progressive myelopath
Brazilian Journal of Medical and Biological Research. Publicado em: 2012-07
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3. Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis
ADRENOMYELONEUROPATHY IS A VARIENT OF ADRENOLEUKODYSTROPHY, both of which are rare inherited disorders of peroxisomes characterized by the accumulation of very-long-chain fatty acids in plasma, the central and peripheral nervous systems, adrenal glands and testes, which leads to dysfunction of these organs and systems. In this article, we describe an illustr
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4. Late onset adrenomyeloneuropathy.
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5. A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.
A 36 year old male patient with adrenomyeloneuropathy (AMN) developed progressive spastic paraparesis and sensory ataxia from the age of 18. Biochemical studies showed increased plasma concentrations of saturated very long chain fatty acids (VLCFAs), subclinical evidence of adrenal insufficiency, and primary hypogonadism. Three female family members had incr
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6. Adrenoleukodystrophy: heterogeneity in two brothers.
A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with th
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7. Nerve conduction studies in adrenomyeloneuropathy.
OBJECTIVE--Adrenomyeloneuropathy (AMN) is an X linked metabolic disorder presenting with progressive spastic paraparesis in the third to fifth decade of life. Although peripheral neuropathy is also present in most patients, prominent pyramidal signs may make its clinical recognition difficult. The objective was to characterise the peripheral neuropathy in pa
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8. Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy.
We previously reported that in childhood adrenoleukodystrophy (C-ALD) and adrenomyeloneuropathy (AMN), the peroxisomal beta-oxidation system for very long chain (greater than C22) fatty acids is defective. To further define the defect in these two forms of X chromosome-linked ALD, we examined the oxidation of [1-14C]lignoceric acid (n-tetracosanoic acid, C24
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9. Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro.
Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy are inherited disorders in which long-chain, saturated fatty acids (LCFA) accumulate in various tissues. A mechanism by which LCFA cause the endocrine and neurological dysfunction characteristic of these diseases is proposed based on in vitro response of human adrenocortical cells to ACTH in the presence o
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10. Fast Diffusion of Very Long Chain Saturated Fatty Acids across a Bilayer Membrane and Their Rapid Extraction by Cyclodextrins: IMPLICATIONS FOR ADRENOLEUKODYSTROPHY*
Abnormalities in the transport of saturated very long chain fatty acids (VLCFA; >C18:0) contribute to their toxic levels in peroxisomal disorders of fatty acid metabolism, such as adrenoleukodystrophy and adrenomyeloneuropathy. We previously showed that VLCFA desorb much slower than normal dietary fatty acids from both albumin and protein-free lipid bilayers
American Society for Biochemistry and Molecular Biology.