FAMILIAL Α-Lipoprotein DEFICIENCY (TANGIER DISEASE) WITH NEUROLOGICAL ABNORMALITIES

Kocen, R S; Lloyd, J. K.; Lascelles, P. T.; Fosbrooke, Audrey S.; Williams, Denis

doi:10.1016/s0140-6736(67)91759-x

Cited by 71 publications

(21 citation statements)

References 20 publications

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“…In the HDL of Tangier patients it was estimated that, compared with normal individuals, the concentration of apoLp-Gln-I was decreased about 600-fold and the con-INTRODUCTION Tangier disease is a rare autosomal recessive disorder characterized by the near absence of plasma high density lipoprotein and the storage of cholesteryl esters in foam cells in many tissues (1). Prominent clinical features include splenomegaly, enlarged, orange-colored tonsils, and a relapsing sensory-motor neuropathy which may be quite disabling (1,2).…”

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confidence: 99%

Studies on the Protein Defect in Tangier Disease

Lux¹,

Levy²,

Gotto³

et al. 1972

J. Clin. Invest.

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A B S T R A CT High density lipoproteins (d 1.063-1.210 g/ml) were isolated from the plasma of normal individuals (HDL) and seven homozygous patients with Tangier disease (HDLT). In Tangier patients., the concentration of protein in the high density region (HDLT) was only 0.5-4.5% of normal. Immunochemical studies, including mixing experiments conducted in vivo and in vitro, indicated that HDLT was different from HDL. HDLT was the only high density lipoprotein detectable in the plasma of Tangier homozygotes. In heterozygotes both HDL and HDLT were present. HDLT was not detected in the plasma of over 300 normal persons and 10 patients with secondary high density lipoprotein deficiency and appeared to be a unique marker for Tangier disease.ApoHDL contained two major apoproteins designated apoLp-Gln-I and apoLp-Gln-II; together they comprised 85-90% of the total protein content. Both of the major HDL apoproteins were present in apoHDLT; but apoLp-Gln-I was disproportionately decreased with respect to apoLp-Gln-II, the ratio of their concentrations being 1: 12 in apoHDLT as compared with 3: 1 in apoHDL. Several minor apoprotein components which together comprise 5-15% of apoHDL were present in approximately normal proportions in apoHDLT. In the HDL of Tangier patients it was estimated that, compared with normal individuals, the concentration of apoLp-Gln-I was decreased about 600-fold and the con-

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confidence: 99%

Studies on the Protein Defect in Tangier Disease

Lux¹,

Levy²,

Gotto³

et al. 1972

J. Clin. Invest.

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“…A distinct pre-beta band typical of VLDL has usually been absent on paper electrophoresis of whole Tangier plasma. Kocen and coworkers (22), moreover, found a low cholesterol: triglyceride ratio in their patient's LDL, an observation confirmed by Greten et al. (23) in another subject with Tangier disease.…”

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confidence: 53%

Properties of the Plasma Very Low and Low Density Lipoproteins in Tangier Disease

Heinen¹,

Herbert²,

Fredrickson³

et al. 1978

J. Clin. Invest.

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“…and of phospholipids to 60-140 mg./lOO ml. The distribution of the phospholipids shows an increase in the percentage of phosphatidyl choline and a decrease in sphingomyelin, which is the opposite of the abnormality found in abetalipoproteinaemia Ultracentrifugal separation of the lipoproteins shows an excess of very low-density lipoproteins (corresponding to pre-betalipoproteins on paper electrophoresis), and analysis of the fractions shows a relative increase of triglyceride in all fractions including the small amount of highdensity (alpha) lipoprotein (Kocen et al, 1967).…”

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confidence: 79%

Lipoprotein deficiency disorders

Lloyd¹

1973

Clinics in Endocrinology and Metabolism

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FAMILIAL Α-Lipoprotein DEFICIENCY (TANGIER DISEASE) WITH NEUROLOGICAL ABNORMALITIES

Cited by 71 publications

References 20 publications

Studies on the Protein Defect in Tangier Disease

Studies on the Protein Defect in Tangier Disease

Properties of the Plasma Very Low and Low Density Lipoproteins in Tangier Disease

Lipoprotein deficiency disorders

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