Neuroacanthocytosis - History

History

Neuroacanthocytosis was first identified in 1950 as Bassen-Kornzweig disease, or Bassen-Kornzweig Syndrome, a rare congenital disorder in which the body failed to produce chylomicrons, a low density lipoprotein (LDL) and very low density lipoprotein (VLDL). Individuals with this condition are unable to properly digest fats. Symptoms include ataxia, peripheral neuropathy and other forms of nerve dysfunction. It was first noted by the North American physician Frank Bassen, who later partnered with the ophthalmologist Abraham Kornzweig to identify and describe causes and symptoms of the disease.

Characteristics of the syndrome includes the presence of acanthocytes (burr-cell malformation of the erythrocytes), and the reduction or even absence of B-lipoproteins. Complications include retinitis pigmentosa, degenerative changes in the central nervous system involving the cerebellum and long tracts, fatty diarrhea, ataxia, areflexia, demyelination, defective intestinal lipid absorption with low serum cholesterol level, intestinal malabsorption, amaurosis, retarded growth, and steatorrhea. Intellectual development may also be slightly retarded. Many afflicted with the syndrome are unable to walk. The syndrome appears in infancy. Affected children appear normal at birth but usually fail to thrive during their first year. The syndrome predominates in males (71%). Most cases occur in children of Jewish descent, especially among Ashkenazi Jews. The disease is transmitted in an autosomal recessive manner. It is also commonly recognized as abetalipoprotein deficiency or abetalipoproteinemia.

A second form of neuroacanthocytosis, Levine-Critchley syndrome, was discovered by the American internist Irvine M. Levine in 1960. He described in Neurology in 1964, and again in 1968. Subsequently, similar symptoms were identified and described by the British neurologist MacDonald Critchley in 1968. In both cases, the physicians described a hereditary syndrome that combined acanthocytosis with neurological peculiarities but normal serum lipoprotein. Various patterns of neurologic conditions were similar to Gille de la Tourette’s syndrome, Huntington’s and chorea syndromes, Friedreich’s syndrome, and parkinsonism. Specific symptoms included tics, grimacing, movement disorders, difficulty swallowing, poor coordination, hyporeflexia, chorea, and seizures. Patients often mutilated their tongues, lips, and cheeks. The diseases appeared in both sexes, and were usually diagnosed in infancy.