Familial adrenoleukodystrophy
نویسندگان
چکیده
منابع مشابه
Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy.
A family with adrenoleukodystrophy and clinical manifestations of spinocerebellar degeneration was studied. Two adult male first cousins showed progressive limb and truncal ataxia, slurred speech and spasticity of the extremities. Brain CT scans demonstrated atrophy of the pons and cerebellum, in both cases. Very long chain fatty acids in plasma and erythrocyte membranes were elevated in the af...
متن کاملFamilial Skewed X Chromosome Inactivation in Adrenoleukodystrophy Manifesting Heterozygotes from a Chinese Pedigree
BACKGROUND X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder caused by mutations in the ABCD1 gene. Approximately 20% of X-ALD female carriers may develop neurological symptoms. Skewed X chromosome inactivation (XCI) has been proposed to influence the manifestation of symptoms in X-ALD carriers, but data remain conflicting so far. We identified a three generation ...
متن کاملAdrenoleukodystrophy: case report.
Adrenoleukodystrophy (ALD) is an X-linked neurodegenerative disorder associated with progressive central demyelination and adrenal insufficiency1. It was first described by Siemerling and Creutzfeldt2 in 1923 as “bronzed sclerosing encephalomyelitis. In 1970, Biaw assigned the now generally used term adrenoleukodystrophy. It is believed to be peroxisomal disease and biochemically characterized ...
متن کاملAdrenoleukodystrophy: 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 the consequent difficulty in diagnosis ...
متن کاملInflammation in X - linked Adrenoleukodystrophy
Project Description: Cells compute by processing external stimuli according to their internal state, abiding to rules that remain poorly understood (Rubens et al., 2016). Cell fate decisions are the key for constructing a multicellular organism. Errors, bias or aberrant delays in making such decisions can lead to neoplasia or in extreme cases, tumorigenesis. Our key question is how cells make d...
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ژورنال
عنوان ژورنال: Problems of Endocrinology
سال: 2001
ISSN: 2308-1430,0375-9660
DOI: 10.14341/probl11527