Bassen-Kornzweig Syndrome: Deficiency of Serum β-Lipoprotein

Schwartz, Jessica

doi:10.1001/archneur.1963.00460040108010

Cited by 57 publications

(8 citation statements)

References 22 publications

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“…Nelson and coworkers21 have attributed the histopathological changes in the sural nerve to central axonal membrane injury and subsequent dying‐back axonopathy. In two autopsy7, 31 and one nerve biopsy29 studies, focal areas of demyelination were found in peripheral nerves. A lack of tocopherol has been demonstrated in peripheral nerves in patients with vitamin E deficiency preceding histological degeneration, suggesting that the nerve injury resulted from low nerve tocopherol content 35…”

Section: Discussionmentioning

confidence: 95%

Isolated vitamin E deficiency with demyelinating neuropathy

et al. 2005

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A 22-year-old man, with a past history of generalized tonic-clonic seizures treated with phenobarbital, presented with spinocerebellar ataxia. The electrophysiological studies revealed a demyelinating motor-sensory neuropathy. The serum vitamin E level was low. Sural nerve biopsy revealed loss of large myelinated fibers with evidence of remyelination. Vitamin E supplementation led to clinical and electrophysiological recovery of sensory conduction and evoked potentials. Motor nerve conduction, however, showed only partial recovery. Vitamin E deficiency leading to a demyelinating neuropathy, as in the present case, suggests that the full spectrum of the disease entity is not fully defined.

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Section: Discussionmentioning

confidence: 95%

Isolated vitamin E deficiency with demyelinating neuropathy

et al. 2005

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“…(13)(14)(15)(16)(17), M.S. (13,(16)(17)(18), and R.I. (15,(19)(20)(21), boys born in 1956, 1954, and 1953, respectively. Control subjects were healthy males and females between the ages of 20 and 40 who were taking no medication.…”

Section: Introductionmentioning

confidence: 99%

Peroxidative Hemolysis of Red Blood Cells from Patients with Abetalipoproteinemia (Acanthocytosis)*

Dodge¹,

Cohen²,

Kayden³

et al. 1967

J. Clin. Invest.

108

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Summary. The effect of peroxidative stress on tissue was studied by exposure of red blood cells (RBC) from patients with abetalipoproteinemia to minute amounts of H202 in vitro. Red blood cells from untreated patients showed a marked sensitivity to H202, as evidenced by hemolysis and lipid peroxidation (peroxidative hemolysis).The appearance of lipid peroxidation products in sensitive cells after exposure to H202 was indicated by 1) increases in the 2-thiobarbituric acid (TBA) reaction of trichloroacetic acid extracts, 2) increases in ultraviolet light absorbency of lipid extracts, and 3) decreases in polyunsaturated fatty acids. These changes were accompanied by a decrease in phosphatidyl ethanolamine and phosphatidyl serine in the RBC lipid extract. Similar lipid changes on exposure to H202 were observed in the RBC from vitamin E-deficient rats.Treatment of the patients with d-a-tocopherol polyethylene glycol succinate by mouth, or addition of dl-a-tocopherol to the incubation medium protected the RBC from peroxidative hemolysis. Tocopherol appears to provide a primary biologic defense against peroxidative hemolysis.The presence of nitrite or carbon monoxide, which produced methemoglobin and carboxyhemoglobin, respectively, inhibited peroxidative changes, suggesting a catalytic role for oxy-or deoxyhemoglobin.

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“…Downie and Newell [1961] discussed the pathogenesis of hyperlipemic neuropathy. Schwartz et al [1963] described pathological changes in the central nervous system and in the peripheral nerves in a case of a beta lipoproteinemia, a disease characterised by a fall in the li poproteins. In this disease, there are severe neuromuscular disturbances because of pregressive degenerative changes in the posterior columnae and in cerebellar pathways.…”

Section: Discussionmentioning

confidence: 99%