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Hypobetalipoproteinemia

Clinical and biochemical description of a new kindred with ‘Friedreich"s ataxia'

Departments of Medicine and Biochemistry and the Section of Neurology of the Pritzker School of Medicine of the University of Chicago and the Franklin McLean Memorial Research Institute, Chicago.

Thirteen members of a kindred were studied who had hypobetalipoproteinemia and presented with signs and symptoms of a spinocerebellar degeneration similar to Friiedreich's ataxia. Findings in the 20-year-old proband included: (1) low fasting cholesterol and beta lipoprotein levels; (2) low to normal serum and red cell tocopherol levels; (3) slow sensory (mixed antidromic) nerve conductiion velocities in tibial, peroneal, and median nerves, with normal motor conduction velocities; (4) normal fat absorption and jejunal biopsy; and (5) absence of acanthocytosis. Further, the serum very low density, low density, and high density lipoproteins and their apopro-teins showed no major differences from normal. Four of the family had low to normal serum cholesterol levels; neurologic signs were observed only in an 11-year-old brother and in a seven-year-old sister.

Dr. Scanu's address is Departmerit of Medicine, University of Chicago Hospitals and Clinics, 950 East 59th Street, Chicago, IL 60637.

This work was presented in part at the annual meeting of the American Academy of Neurology, San Francisco, April 26, 1974.

This work was supported by USPHS grant No. 08728. the Illinois and Chicago Heart Association (A72–6), and the US. Atomic Energy Commission. The Franklin McLean Memorial Research Institute is operated by the University of Chicago for the Atomic Energy Commission. A. M. Scanu is recipient of USPHS Career Development Award No. HL 24867. L. P. Agger-beck is recipient of Grant No. HD 00001 from the National Institute of Child Health and Human Development. J. P. McMahon is presently an NlNDS Postdoctoral Fellow in the Department of Neurology, Washington University, St. Louis.

Received for publication June 6, 1974.