i(3)so3-galactosylceramide and Syndrome

Topics: Age of Onset; Autoantibodies; Gait Ataxia; Humans; Polyneuropathies; Sulfoglycosphingolipids; Syndrome

We studied a series of 64 patients with sensory +/- motor peripheral neuropathies by comparing clinical and physiologic features to serum antibody reactivity against compounds containing sulfated carbohydrate moieties. We determined antibody reactivity by an enzyme-linked immunosorbent assay (ELISA) using purified glycolipids and glycoproteins as antigens, and we used high-performance thin-layer chromatography and Western blotting to test the specificity of results. Twelve patients with high titers of IgM antibodies directed against the myelin-associated glycoprotein (MAG) had sensory-motor polyneuropathies with physiologic evidence of demyelination. IgM antibody reactivity to MAG was associated with an IgM serum M protein in five patients. Eight other patients, most with sensory greater than motor polyneuropathies, had high titers of antibody reactivity to sulfatide but not of IgM to MAG. Two had an associated IgM paraprotein. None of the patients with selective serum antisulfatide activity had predominantly demyelinating features on physiologic testing. We conclude that (1) high ELISA titers of antibodies to MAG may be more common than previously suspected in patients with chronic demyelinating sensory-motor neuropathies, and (2) the presence of high titers of antisulfatide antibodies in serum may provide clues to the pathogenesis of otherwise idiopathic, axonal, predominantly sensory neuropathies.

Topics: Adult; Aged; Antibodies; Enzyme-Linked Immunosorbent Assay; Female; Humans; Immunoglobulin G; Immunoglobulin M; Male; Middle Aged; Myelin Proteins; Myelin-Associated Glycoprotein; Peripheral Nervous System Diseases; Sensation; Sulfoglycosphingolipids; Syndrome

Topics: Abnormalities, Multiple; Ceramides; Cerebrosides; Child, Preschool; Chromatography, Gas; Chromatography, Thin Layer; Cytoplasmic Granules; Fibroblasts; Galactose; Gangliosides; Glucose; Humans; Lactose; Lipidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Neuraminic Acids; Retinitis Pigmentosa; Sphingolipids; Sphingomyelins; Sulfoglycosphingolipids; Syndrome

Topics: Brain; Ceramides; Cerebrosides; Diffuse Cerebral Sclerosis of Schilder; Female; Fibroblasts; Galactose; Galactosidases; Gaucher Disease; Glucose; Glycolipids; Glycoside Hydrolases; Hexosaminidases; Humans; Intestines; Kidney; Leukocytes; Lipid Metabolism, Inborn Errors; Lipidoses; Liver; Male; Muscles; Niemann-Pick Diseases; Phosphoric Diester Hydrolases; Sphingomyelins; Spleen; Sulfoglycosphingolipids; Syndrome

Topics: Child; Diffuse Cerebral Sclerosis of Schilder; Eye Manifestations; Gangliosides; Humans; Infant, Newborn; Intellectual Disability; Lipid Metabolism, Inborn Errors; Lipidoses; Lipopolysaccharides; Macula Lutea; Male; Niemann-Pick Diseases; Pigmentation Disorders; Respiratory Distress Syndrome, Newborn; Sphingolipids; Sphingomyelins; Sulfoglycosphingolipids; Syndrome