[Adrenoleukodystrophy and adrenomyeloneuropathy--clinical spectrum, pathobiochemical aspects, diagnosis and therapy].
Adrenoleukodystrophy (ALD) is characterized by adrenal cortical insufficiency and progressive demyelination of the central nervous system with lethal outcome in childhood. Adrenomyeloneuropathy (AMN) represents a clinical variant of ALD with later manifestation during adolescence. The neurological symptoms of this form are slowly progressive spastic paraparesis and peripheral neuropathy. Other intermediate forms, which might be classified as adrenoleukomyeloneuropathy (ALMN), possibly represent an overlap of the two conditions. Heterozygote carriers of the X-linked disease may also show neurological symptoms, such as spastic paraparesis and peripheral neuropathy. Biochemically, all these X-linked forms of ALD/AMN are characterized by an accumulation of very-long-chain fatty acids in various tissues and body fluids indicating an impaired peroxisomal metabolism. In this study two families with ALD are presented. The two forms of ALD and AMN were observed in different members of the families including a heterozygote female carrier with neurological symptoms. The different clinical syndromes, the biochemical and genetic basis, and new therapeutical strategies are discussed.
Zierz
S
S
Neurologische Universitätsklinik Bonn.
Tackmann
W
W
D000326:Adrenoleukodystrophy / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D010525:Peripheral Nerves / Q000503:physiopathology; D011930:Reaction Time / Q000502:physiology; D012307:Risk Factors; D009435:Synaptic Transmission / Q000502:physiology
Adrenoleukodystrophie und Adrenomyeloneuropathie--klinisches Spektrum, Pathobiochemie, Diagnose und Therapie.