Bassen-Kornzweig syndrome

Abetalipoproteinemia or Bassen-Kornzweig syndrome, a potentially disabling, familial disease characterized by lack of plasma TGs, malabsorption of fat-soluble vitamins, liver steatosis, steatorrhea, and other symptoms, is linked to mutations in the MTP functional subunit [52,53],... 

Sorbrevilla LA, Goodman ML Demyelinating CNS disease, macular atrophy and acanthocytosis (Bassen-Kornzweig syndrome). Am J Med 37 821-832,1964. 

Synonyms Bassen-Kornzweig syndrome, familial low density lipoprotein deficiency, acanthocytosis. 

Schwartz, J. F., L. P. Rowland, H. A. Eder, P. M. Marks, E. Ossermann, H. Anderson, and E. Hirschberg Bassen-Kornzweig Syndrome neuromuscular disorder resembling Friedreich s ataxia associated with retinitis pigmentosa, acanthocytosis, steatorrhea, and an abnormality of lipid metabolism. Trans. Amer. Neurol. Ass. 86, 49 (1961). 

E. Hirschberg, and H. Anderson Bassen-Kornzweig Syndrome deficiency... 

Numerous tedious laboratory procedures can be avoided by the use of paper-electrophoresis for lipoproteins, where in analogy to missing LDL in the Bassen-Kornzweig syndrome, the lack of the HDL band is diagnostic for TD. 

---