Studies in Inherited Metabolic Disease pp 169-172 | Cite as
Adrenomyeloneurodystrophy with Late Cerebral Involvement and Evidence of a Multiple Autoimmune Disorder
Chapter
Abstract
The classical form of adrenoleukodystrophy (ALD; McKusick 20237) has infantile onset. Adrenomyeloneurodystrophy (AMN), having genetic, biochemical and ultrastructural features closely correlated to those of ALD, has been described in adults (Griffin et al., 1977). AMN is clinically characterized by spastic paraparesis, adrenal insufficiency, peripheral neuropathy and variable degree of hypogonadism.
Keywords
High Performance Liquid Chromatography Cerebral Spinal Fluid Spastic Paraparesis Superficial Peroneal Nerve Sensory Conduction Velocity
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
Preview
Unable to display preview. Download preview PDF.
References
- Alberghina, M., Fiumara, A., Pavone, L. and Giuffrida, A. M. Determination of C20-C30 fatty acids by reversed-phase chromatographic techniques: an efficient method to quantitate minor fatty acids in serum of patients with adrenoleukodystrophy. Neurochem. Res. 9 (1984) 1719–1727PubMedCrossRefGoogle Scholar
- Bernheimer, H., Budka, H. and Muller, P. Brain tissue immunoglobulins in adrenoleukodystrophy: a comparison with multiple sclerosis and systemic lupus erythematosus. Acta Neuropathol. 59 (1983) 95–102PubMedCrossRefGoogle Scholar
- Bouteille, M., Guazzi, G. C., Martin, J. J., Masselin, S., Houdart, R. and Delarue, J. Un cas d’encéphalite périaxile diffuse de Schilder. I. Etude anatomo-clinique. Ann. Anat. Pathol. 13 (1968) 43–54Google Scholar
- Griffin, J. W., Goren, E., Schaumburg, H., Engel, W. K. and Loriaux, L. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinological aspects. Neurology 27 (1977) 1107–1113PubMedCrossRefGoogle Scholar
- Martin, J. J., Dompas, B., Ceuterick, C. and Jacobs, K. Adrenomyeloneuropathy and adrenoleukodystrophy in two brothers. Eur. Neurol. 19 (1980) 281–287PubMedCrossRefGoogle Scholar
- Moser, H. W., Moser, A. E., Singh, A. E. and O’Neill, B. P. Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis and therapy. Ann. Neurol. 16 (1984) 628–641PubMedCrossRefGoogle Scholar
- Schaumburg, H. H., Powers, J. M., Raine, C. S., Spencer, P. S., Griffin, J. W., Prineas, J. W. and Boheme, D. M. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic and biochemical aspects. Neurology 27 (1977) 1114–1119PubMedCrossRefGoogle Scholar
Copyright information
© Springer Science+Business Media Dordrecht 1988