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Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred.
- Source :
-
Neurology [Neurology] 1982 May; Vol. 32 (5), pp. 540-2. - Publication Year :
- 1982
-
Abstract
- Varying combination of central and peripheral nervous system disease and Addison disease were previously described in 14 members of a family. The diagnosis of adrenoleukodystrophy (ALD) was documented in affected individuals by increased content of C26:0 C26/C22 fatty acid ratios were not proportional to the neurologic syndrome, severity of disease, or duration.
- Subjects :
- Addison Disease genetics
Addison Disease metabolism
Adrenal Gland Diseases genetics
Central Nervous System Diseases genetics
Demyelinating Diseases genetics
Female
Fibroblasts metabolism
Genetic Linkage
Humans
Male
Pedigree
Peripheral Nervous System Diseases genetics
Skin
Adrenal Gland Diseases metabolism
Central Nervous System Diseases metabolism
Chromosomes
Demyelinating Diseases metabolism
Fatty Acids metabolism
Peripheral Nervous System Diseases metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 0028-3878
- Volume :
- 32
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 6280106
- Full Text :
- https://doi.org/10.1212/wnl.32.5.540