i(3)so3-galactosylceramide and Neuromuscular-Diseases

Treatment of immune-mediated neuropathies first requires an accurate diagnosis. The diagnosis is often based on clinical, electrophysiological, and immunological features of the syndrome. The selection of appropriate therapies is then based on the spectrum of response of a syndrome to medications and an assessment of possible side effects. In neuropathies with associated serum immunoglobulin M autoantibodies, such as anti-myelin-associated glycoprotein and motor syndromes, the choices of therapy are often limited to cytotoxic agents and, in some cases, intravenous immunoglobulin. In neuropathies with immunoglobulin G antibodies in both serum and cerebrospinal fluid, such as sensory neuronopathies associated with anti-Hu antibodies, there is no well-documented response to any immunotherapy. The general principles regarding therapy of immune neuropathies will be discussed with a focus on diagnosis and treatment options of the demyelinating and immunoglobulin M antibody-associated neuropathies.

Topics: Antibodies, Monoclonal; Antibodies, Monoclonal, Murine-Derived; Autoantibodies; Cyclophosphamide; Demyelinating Diseases; Humans; Immunoglobulin M; Immunoglobulins, Intravenous; Immunosuppressive Agents; Myelin-Associated Glycoprotein; Neuromuscular Diseases; Polyneuropathies; Rituximab; Sulfoglycosphingolipids

A woman aged 21 with a variant form of metachromatic leucodystrophy (MLD) combined with another form of leucodystrophy is described. The clinical symptoms were retinitis pigmentosa and progressive neurological deficits such as mental retardation, dystonia, pyramidal tract involvement and peripheral neuropathy. The biochemical findings were marked deficiency of arylsulfatase-A and cerebroside-sulfatase in cultured fibroblasts and excretion of sulfatides in the urine. Sulfatide-loading of cultured fibroblasts showed almost normal uptake and degradation of sulfatides. The patient's sister suffers from a clinically similar neurological disease, but normal activity of arylsulfatase-A was found in her leucocytes. A severe oral-facial dystonia in the patient was successfully controlled by l-dopa.

Topics: Adult; Central Nervous System Diseases; Cerebroside-Sulfatase; Female; Fibroblasts; Humans; Intellectual Disability; Leukocytes; Leukodystrophy, Metachromatic; Nerve Degeneration; Neuromuscular Diseases; Retinitis Pigmentosa; Sulfoglycosphingolipids