TY - JOUR
T1 - Adreno- leukodystrophy
T2 - Clinical and biochemical manifestations in carriers
AU - O’Neill, Brian P.
AU - Moser, Hugo W.
AU - Saxena, Krishna M.
AU - Marmion, Lee C.
PY - 1984/6
Y1 - 1984/6
N2 - 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.
AB - 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.
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U2 - 10.1212/wnl.34.6.798
DO - 10.1212/wnl.34.6.798
M3 - Article
C2 - 6539445
AN - SCOPUS:0021274199
SN - 0028-3878
VL - 34
SP - 798
EP - 801
JO - Neurology
JF - Neurology
IS - 6
ER -