g(m1)-ganglioside and Cerebellar-Ataxia

Clinical and immunological evaluation of 'incomplete' Bickerstaff brainstem encephalitis (BBE).. We studied two patients with postinfectious brainstem syndromes who presented at National University Hospital Singapore. Laboratory work-up included measurement of antiganglioside antibodies.. Both patients displayed hypersomnolence and cerebellar-like ataxia in the absence of external ophthalmoplegia and carried high serum titres of IgG anti-GQ1b antibodies, strongly indicative of BBE.. Ophthalmoplegia can be absent or incomplete in BBE, and the absence of this clinical feature should not exclude BBE from the clinicians' differential. Such cases of incomplete BBE could be defined as 'ataxic hypersomnolence without ophthalmoplegia'.

Topics: Adult; Autoantibodies; Brain Stem; Cerebellar Ataxia; Disorders of Excessive Somnolence; Encephalitis; Female; Follow-Up Studies; G(M1) Ganglioside; Gangliosides; Humans; Immunization, Passive; Middle Aged; Neurologic Examination; Ophthalmoplegia

The anti-GD1b antibody is known to bind to the cerebellar granular layer or spinocerebellar Ia fibers. A few cases of anti-GD1b positive acute inflammatory demyelinating polyneuropathy with prominent cerebellar ataxia were reported. Recently, we encountered a middle-aged woman with Guillain Barré syndrome (GBS) with severe cerebellar ataxia and relatively mild motor weakness. Anti-GD1b Ig G antibody and anti-GM1 Ig G antibody titers were markedly elevated in her serum. She was diagnosed with acute motor axonal neuropathy (AMAN) with prominent cerebellar ataxia based on the results of the serial nerve conduction study suggesting axonal neuropathy. This case presents the clinico-pathogenic role of autoantibodies to the GD1b and the GM1 in acute inflammatory neuropathy.

Topics: Autoantibodies; Axons; Cerebellar Ataxia; Female; G(M1) Ganglioside; Gangliosides; Humans; Immunoglobulins, Intravenous; Middle Aged; Polyneuropathies

A 79-year-old man with sensory dominant polyneuropathy, cerebellar ataxia, and palatal myoclonus had serum IgM M-protein that specifically bound to GM1, GD1b, and asialo-GM1. IgM with the same specificity was detected in his cerebrospinal fluid. Results of immunohistochemical studies showed specific binding of this monoclonal IgM to the cerebellar granular layer, dentate nucleus, inferior olive, and gray matter of the cerebrum and spinal cord. Monoclonal antibody GGR12, monospecific to GD1b, had an immunostaining distribution similar to that of the patient's IgM M-protein. The binding of M-protein may be associated with the development of cerebellar ataxia and palatal myoclonus in this patient.

Topics: Aged; Antigens, Tumor-Associated, Carbohydrate; Cerebellar Ataxia; Chromatography, Thin Layer; Enzyme-Linked Immunosorbent Assay; Epitopes; G(M1) Ganglioside; Gangliosides; Humans; Immunoglobulin M; Immunohistochemistry; Male; Myelin Proteins; Peripheral Nervous System Diseases

An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound deficiency of beta-galactosidase in liver and brain. Thrombocytopathy of undetermined etiology was evident since childhood, and the patient died of intracranial bleeding at age 22. Cerebral ganglioside pattern was normal. Hepatic mucopolysaccharides were not increased. GM1-gangliosidosis and mucopolysaccharidosis were ruled out by those analytical data. However, a large amount of amylopectin-like polysaccharide was found to be accumulated in liver. Hepatocyte contained numerous inclusion bodies with granulofibrillary structure similar to Lafora bodies, corpora amylacea, and inclusion bodies in glycogenosis type IV. This case seems to represent a new inborn metabolic disease closely related to GM1-gangliosidosis and mucopolysaccharidosis. The primary metabolic defect is not known at present.

Topics: Adult; Blood Platelet Disorders; Brain; Cerebellar Ataxia; Epilepsies, Myoclonic; G(M1) Ganglioside; Galactosidases; Hexoses; Humans; Liver; Lysosomes; Male; Mucolipidoses; Mucopolysaccharidoses; Polysaccharides; Skin; Skin Manifestations; Spinal Cord; Syndrome