Adrenoleukodystrophy: heterogeneity in two brothers.
Open Access
- 1 March 1989
- journal article
- research article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 52 (3) , 310-313
- https://doi.org/10.1136/jnnp.52.3.310
Abstract
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 and nomenclature.This publication has 9 references indexed in Scilit:
- Late onset adrenomyeloneuropathy.Journal of Neurology, Neurosurgery & Psychiatry, 1987
- Adrenoleukodystrophy in a mother and son.Journal of Neurology, Neurosurgery & Psychiatry, 1987
- The cerebro-hepato-renal (Zellweger) syndrome: Lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasmaJournal of the Neurological Sciences, 1985
- Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapyAnnals of Neurology, 1984
- ADRENOLEUKODYSTROPHY: CLINICAL, PATHOLOGICAL AND BIOCHEMICAL FINDINGS IN TWO BROTHERS WITH THE ONSET OF CEREBRAL DISEASE IN ADULT LIFENeuropathology and Applied Neurobiology, 1984
- Schizophreniform Psychosis and AdrenomyeloneuropathyJournal of the Royal Society of Medicine, 1984
- PEROXISOMES AND HUMAN METABOLIC DISEASES: THE CEREBROHEPATORENAL SYNDROME (CHRS), CEREBROTENDINOUS XANTHOMATOSIS, AND SCHILDER'S DISEASE (ADRENOLEUKODYSTROPHY)*Annals of the New York Academy of Sciences, 1982
- AdrenomyeloneuropathyNeurology, 1977
- AdrenoleukodystrophyArchives of Neurology, 1975