Adreno- leukodystrophy: Clinical and biochemical manifestations in carriers

Brian P. O’Neill, Hugo W. Moser, Krishna M. Saxena, Lee C. Marmion

Research output: Contribution to journalArticlepeer-review

41 Scopus citations

Abstract

We studied 21 women from four definite adreno- leukodystrophy (ALD) kinships. Nine women had a spastic paraparesis, including two with peripheral neuropathy. Fifteen women were assigned heterozygote status based on abnormal very-long-chain fatty acid (VLCFA) concentrations in plasma, fibroblasts, or both. These 15 included those with abnormal examinations and all women judged to be carriers by clinical criteria. Some ALD heterozygotes have varying degrees of neurologic disease, usually spastic paraparesis. Carrier detection is possible by determination of VLCFA concentrations in plasma and cultured skin fibroblasts. Any woman at risk in an ALD kinship, and who demonstrates a spastic paraparesis, should be assumed to be a carrier until biochemical testing is obtained. To determine whether a woman is an ALD carrier, measurement of plasma VLCFA levels should be done initially. If this gives normal or equivocal results, VLCFA levels should be measured in cultured skin fibroblasts.

Original languageEnglish (US)
Pages (from-to)798-801
Number of pages4
JournalNeurology
Volume34
Issue number6
DOIs
StatePublished - Jun 1984

ASJC Scopus subject areas

  • Clinical Neurology

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