Inherited peroxisomal disorders involving the nervous system.
نویسندگان
چکیده
منابع مشابه
Diagnosis of inherited metabolic disorders affecting the nervous system.
Knowledge of the molecular causes for genetic diseases that affect the nervous system is rapidly expanding. Especially striking has been the finding in several autosomal dominant neurodegenerative disorders that unstable expansions of trinucleotide repeats are responsible for the genetic disorder and that the length of the repeat can be correlated with the age of onset and the severity of sympt...
متن کاملFrom peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system.
The emerging diverse roles of ether (phospho)lipids in nervous system development and function in health and disease are currently attracting growing interest. Plasmalogens, a subgroup of ether lipids, are important membrane components involved in vesicle fusion and membrane raft composition. They store polyunsaturated fatty acids and may serve as antioxidants. Ether lipid metabolites act as pr...
متن کاملPeroxisomal disorders: the single peroxisomal enzyme deficiencies.
Peroxisomal disorders are a group of inherited diseases in man in which either peroxisome biogenesis or one or more peroxisomal functions are impaired. The peroxisomal disorders identified to date are usually classified in two groups including: (1) the disorders of peroxisome biogenesis, and (2) the single peroxisomal enzyme deficiencies. This review is focused on the second group of disorders,...
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N Engl J Med 2003;349:1543-54. Copyright © 2003 Massachusetts Medical Society. he term “paraneoplastic syndromes” refers to symptoms or signs resulting from damage to organs or tissues that are remote from the site of a malignant neoplasm or its metastases. Paraneoplastic syndromes can affect most organs and tissues. Widely known examples include cancer cachexia, 1 hypercalcemia, 2 Cushing’s sy...
متن کاملPeroxisomal disorders.
Peroxisomes are subcellular organelles catalyzing a number of indispensable functions in cellular metabolism. The importance of peroxisomes is stressed by the existence of an expanding number of genetic diseases in which there is an impairment of one or more peroxisomal functions. The prototype of this group of diseases is the cerebro-hepato-renal syndrome of Zellweger (ZS), first described as ...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1988
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.63.7.767