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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family is described with three affected brothers, two of whom were examined, born to consanguineous parent, who in early adult life began to experience ataxia, intention myoclonus, and progressive visual failure. The brothers examined had cherry red spots at the maculae and cataracts. They were of normal intelligence. The intention myoclonus responded partially to treatment with clonazepam and pheneturide, but not to 5-hydroxytryptophan in combination with carbidopa or to sodium valproate. Studies in one patient showed the excretion of large quantities of sialylated oligosaccharides in the urine. Both patients showed deficient sialidase activity in their cultured fibroblasts. Further studies on cultured skin fibroblasts revealed increased electrophoretic mobility of six glycoprotein enzymes that was returned approximately to normal by treatment with sialidase. The clinical and biochemical findings indicate that these patients are further cases of the newly described condition sialidosis type 1.
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PMID:Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings. 51 62

We describe 3 children (from two families) with a multisystemic disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy and growth retardation. Due to the clinical similarities to a recently recognized disorder associated with carbohydrate-deficient transferrin, we examined serum transferrin by means of isoelectric focusing, and found increases in disialo transferrin and asialotransferrin. Removal of sialic acid with neuraminidase revealed the same transferrin phenotypes as in their parents. Similarly, carbohydrate-deficient fractions of serum alpha 1-antitrypsin were also detected. Therefore, the diagnosis was made of the recently identified carbohydrate-deficient glycoprotein syndrome. This is a genetic disorder with distinctive clinical features and multiple carbohydrate-deficient glycoproteins. These seem to be the first reported Japanese patients with this syndrome.
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PMID:The carbohydrate deficient glycoprotein syndrome in three Japanese children. 159 May 25

Polyneuropathy associated with IgM monoclonal gammopathy has been documented first for Waldenstrom's disease, then for IgM monoclonal gammopathy of undetermined significance (MGUS). The usual clinical aspect is a chronic symmetric predominantly sensory polyneuropathy, occurring insidiously in elderly patients. Tremor and ataxia are characteristic findings, but their mechanism is unclear. The electrophysiological and pathological features are consistent with a primary demyelination with secondary axonal loss. Monoclonal IgM level is frequently low in MGUS cases and the light chain is Kappa in most of the cases. The IgM M-protein is shown to bind to myelin-associated-glycoprotein (MAG) and/or other antigens of the peripheral nerve myelin in most of the cases. The course of the polyneuropathy is usually slowly progressive. Some other clinical aspects of peripheral neuropathy associated to IgM monoclonal gammopathy have been reported. Recently the attention has been directed towards motor neuron diseases (MND) associated to IgM MGUS, but the significance of this association remains unclear.
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PMID:Polyneuropathy associated with IgM monoclonal gammopathy: a review. Clinical, electrophysiological and pathological features. 196 90

Alphafetoprotein (AFP) represents an embryo-fetal glycoprotein. The fetus it enters amnion fluid and maternal serum. Increased concentrations are observed in these fluids in the presence of certain fetal malformations, e.g. neural tube defects and anterior abdominal wall defects or omphalocele, and in congenital nephrosis of the Finnish type. An increased concentration also signals general risks as an increased tendency to abortion or to low birth weight infants. Very low maternal serum AFP indicates an increased risk for trisomy 21. Postnatally increased AFP-concentration has been described in ataxia-teleangiectasia (Louis-Bar-Syndrome) and in severe combined immunodeficiency syndrome. Although the AFP-determination is mainly used for obstetric prenatal care and diagnosis it also has an importance for the pediatrician as an early indicator of special risks.
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PMID:[What should the pediatrician know about prenatal AFP diagnosis?]. 244 9

Thy-1 is an abundant surface glycoprotein of rat neurons. OX7 is a monoclonal antibody with high affinity for Thy-1. This study sought to determine if intraventricularly administered OX7 could serve as a carrier to deliver cytotoxin to neurons, thus destroying those neurons. Saporin (Sap), a ribosome-inactivating protein was disulfide-coupled to OX7 (OX7-Sap). OX7-Sap, OX7, saporin alone, pooled non-immune mouse IgG, and an irrelevant immunotoxin, RFT-1-Sap, were injected into the lateral ventricles of anesthetized adult rats. Animals were observed for 1-8 days. OX7-Sap-injected animals developed coarse head tremor and gait/truncal ataxia in a dose-dependent manner beginning 24 h or more after injection. All control animals remained healthy. After OX7 or OX7-Sap injection, immunoperoxidase staining for mouse IgG was most intense and specific in the molecular and Purkinje cell layers of the cerebellar cortex. Cresyl violet staining demonstrated destruction of the Purkinje cell layer in the OX7-Sap-treated animals but not in controls. These results indicate that intraventricular injections of OX7 can be used to deliver biologically active moieties to the Purkinje cells. This approach may prove useful in analysis of Purkinje cell function and as a model of cerebellar degeneration.
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PMID:Anti-Thy-1 immunotoxin, OX7-saporin, destroys cerebellar Purkinje cells after intraventricular injection in rats. 257 21

The lethality of Poa huecu, a plant toxic to cattle and sheep, was followed by injection of chromatographic fractions in mice. The lethal aqueous extract was administered i.p. to Rockland mice of either sex and produced motor incoordination, transient ataxia, rough hair coat, tremors and muscle contractions and, occasionally, blindness. Doses greater than 1.5 g/kg mouse were always lethal. Fractionation of this lethal extract included dialysis, column chromatography on Sephadex G-25 and fractional precipitation with ethanol. Precipitates obtained with 70% and 85% ethanol were further purified on a DEAE-cellulose column. Eight fractions were obtained, each was injected into mice. Only fractions 3-6 were toxic. Fraction 3 produced slight hepatosis and hyperemia in the liver and gliosis in the brain. None of the other tissues exhibited histological lesions. Fractions 4 and 5 caused death of all animals within 30 min to 4 hr after injection. Polyacrylamide gel electrophoresis and acid hydrolysis showed that fractions 4 and 5 contained a glycoprotein of nearly the same mol. wt (67,000-94,000). Microscopic pathology in the mice treated with the lethal glycoprotein of fraction 4 included hyperemia in the kidneys, megakaryocytes in the spleen, slight hepatosis and focal coagulative necrosis with nuclear pyknosis and karyonexis in the liver, gliosis, intracellular brain edema with axon degeneration and swollen astrocytes in the brain. These brain injuries may relate to the motor incoordination of cattle that causes a delayed righting reflex. The major monosaccharides of the lethal glycoprotein are glucose and mannose, while rhamnose, arabinose, xylose and galactose are present in low percentages. Proline and the acidic amino acids (glutamic and aspartic acids) are the most abundant in the peptidic residue.
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PMID:The lethal principle of Poa huecu (coiron blanco): a plant indigenous to Argentina. 262 69

The results of follow-up of 76 children with progressive ataxia first reported in 1988 are described with special reference to type of potential underlying metabolic diseases. In 70% of cases the clinical follow-up did not lead to reconsideration of diagnoses. Six of 23 biochemically and morphologically re-examined children got a new and definite diagnosis: 1 myoclonic encephalopathy with ragged red fibres, 2 carbohydrate-deficient glycoprotein syndrome, 1 neuroborreliosis, 1 Hallervorden-Spatz disease and 1 leucodystrophy. Different clinical groups are discussed.
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PMID:Progressive ataxia in Swedish children: a re-evaluation study. 804 50

A new group of recessively inherited metabolic disorders affecting glycoprotein metabolism has been identified--the carbohydrate-deficient-glycoprotein (CDG) syndromes. Here the course and clinical expression of CDG syndrome type I in 13 patients who have passed the age of 15 years are described. All presented with early onset psychomotor retardation, in most cases combined with slight facial dysmorphic features, some degree of hepatic dysfunction, and in one case, pericardial effusion. About half of the patients had subcutaneous lipodystrophy and comatose or stroke-like episodes during childhood. After the age of 15 the disease was mainly characterised by neurological symptoms consisting of non-progressive ataxia associated with cerebellar hypoplasia, stable mental retardation, variable peripheral neuropathy, and strabismus. One third of the patients had generalised seizures, usually sporadic, and all had retinal pigmentary degeneration. In all cases there was more or less pronounced thoracic deformity and no female had passed puberty. Also, the oldest female showed premature aging. Severe internal organ symptoms, which are common in pediatric patients, were absent. All patients had highly raised serum concentrations of the biochemical marker carbohydrate-deficient transferrin, which can be used to verify the diagnosis. It is concluded that after childhood, CDG syndrome type I is a largely non-progressive disease compatible with a socially functioning but dependent lifestyle.
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PMID:Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. 820 22

The spectrum of peripheral neuropathy associated with monoclonal gammapathy is wide: peripheral neuropathy associated with IgM monoclonal gammapathy, in which serum antibody activity has been demonstrated against MAG (myelin-associated-glycoprotein) and SGPG, mainly presents as a chronic demyelinating sensory polyneuropathy, with predominant tremor and ataxia. Polyneuropathy reported in association with multiple myeloma or MGUS (monoclonal gammapathy of undetermined significance) IgG and IgA are more heterogenous: mainly axonal, mixed or sometimes demyelinating as in POEMS syndrome. The treatment of these polyneuropathies is evaluated in trials in progression using corticosteroids, plasma exchanges and IgIV (polyvalent immunoglobulins).
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PMID:[Neurological manifestations of monoclonal gammopathies]. 838 55

The carbohydrate-deficient glycoprotein syndromes are a recently individualized group of genetic multisystemic disorders. A predominant feature is a severe involvement of the central and peripheral nervous system resulting in psychomotor retardation, seizures, ataxia, and, mostly after infancy, stroke-like episodes. The hallmark biochemical feature is a carbohydrate deficiency in a large number of serum glycoproteins. Because coagulation factors and inhibitors are also glycoproteins, we performed a systematic study of these factors and inhibitors in nine patients with carbohydrate-deficient glycoprotein syndrome. All showed a decreased activity of factor XI and of the coagulation inhibitors antithrombin III and protein C. In five of seven patients more than 1 y old, there was also a (less pronounced) decrease of protein S and of heparin cofactor II. This combined coagulation inhibitor deficiency could explain the stroke-like episodes occurring in these children.
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PMID:A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome. 851 Oct 30


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