Definitions of A alphalipoprotein Neuropathies

  1. A rare autosomal recessive familial disorder of cholesterol metabolism, characterized by extremely low HDL- cholesterol, reduced total cholesterol, and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL ( creating a yellow- orange appearance); and RETINITIS PIGMENTOSA. A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A- I and APOLIPOPROTEIN A- II, and a defect in cellular signaling and mobilization of lipids. ( From Nat Genet 1998 Sep; 20( 1): 96- 8; Adams et al., Principles of Neurology, 6th ed, pp1347- 8; Menkes, Textbook of Child Neurology, 5th ed, p118)