Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0152025 (polyneuropathy)
 7,862 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients who suffer from familial amyloidotic polyneuropathy frequently complain of mouth dryness and an increased need for dental treatment. The aim of the present investigation was to study saliva secretion rate and composition and other factors related to the risk of dental caries in patients with familial amyloidotic polyneuropathy. Thirty patients with familial amyloidotic polyneuropathy volunteered for the study and were compared with a matched control group. Samples of unstimulated and stimulated whole saliva were collected in a standardized manner. The secretion rates were calculated, and the concentrations of electrolytes, glycoprotein markers, and proteins with antibacterial properties were analyzed. Dental caries and variables related to the risk of dental caries were also scored. The results show that familial amyloidotic polyneuropathy patients frequently have a decreased rate of saliva secretion and that the degree of salivary hypofunction is positively correlated to the progress of familial amyloidotic polyneuropathy. Forty-three percent of the familial amyloidotic polyneuropathy patients in this study had no detectable secretion of unstimulated saliva. A low secretion rate of stimulated saliva (< 0.7 ml/min) was found in 33% of the patients. The concentrations of salivary protein, amylase, lysozyme, salivary peroxidase, secretory IgA, hexosamines, sialic acid, fucose, phosphate, potassium, and the degree of protein glycosylation were higher in the familial amyloidotic polyneuropathy patients than in the control patients. We conclude that patients with familial amyloidotic polyneuropathy have a reduced saliva secretion and are subsequently at risk for increased development of dental caries.
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PMID:Salivary hypofunction in patients with familial amyloidotic polyneuropathy. 148 30

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

Immune mediated neuropathy includes acute inflammatory demyelinating polyneuropathy (AIDP), chronic inflammatory demyelinating neuropathy (CIDN), paraproteinemic polyneuropathy (PPN) and Crow-Fukase syndrome (CFS). Serum antibodies as humoral immunity in patients with immune mediated neuropathy were measured by the method of immunoblots and ELISA. P0 protein, P2 protein, 170K-Mr glycoprotein and ganglioside (GGD) of human peripheral nerve myelin and MBP, myelin associated glycoprotein (MAG) of human central nerve myelin were used as antigens. In AIDP anti P2 antibodies were elevated significantly. However, anti MBP antibodies were also elevated in parallel. In PPN anti MAG antibodies were detected in 4 patients with IgM-M proteinemia and demyelinating neuropathy. High titers of anti MAG antibodies were also detected in the same 4 patients. Characteristic pathological findings of biopsied sural nerve were segmental demyelination with widening of the intraperiod line of the outer myelin lamella in all 4 patients. Positive rate of anti myelin antibodies were 23% in 23 cases with PPN. Anti 170K-Mr glycoprotein was detected only in one patient with IgM-M proteinemia, polyneuropathy and incurable dermatitis. Anti GGD antibodies were not detected in PPN or CFS. A few patients with GBS or CIDN have anti GGD antibodies in ELISA. It is well known that various antibodies to peripheral nerve myelin are detected in neuropathy, especially demyelinating state. The most important antigen established in this study in the pathogenesis of neuropathy is MAG. IgM monoclonal protein including anti MAG antibodies was absorbed by purified MAG completely. Anti 170K Mr glycoprotein was also absorbed by purified 170K-Mr glycoprotein. Role of humoral antibody to peripheral nerve myelin specific 170K-Mr glycoprotein remains to be solved.
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PMID:[Humoral antibodies in immune mediated neuropathy]. 196 17

The carbohydrate-deficient glycoprotein syndrome is a newly described hereditary disorder which may be due to a defect in the glycoprotein metabolism. Predominant symptoms are mental retardation, epilepsy, cerebellar ataxia, polyneuropathy, squint, retinitis pigmentosa, retarded growth, hypothyroidism and liver steatosis. Increased serum glycoprotein-deficient transferrin is a marker of the disease and confirms the diagnosis. We describe four Norwegian children with this syndrome. Olivopontocerebellar degeneration was found upon examination of the brain in two patients who died.
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PMID:[The carbohydrate deficient glycoprotein syndrome]. 1044 Oct 90

Immunoglobulins from patients with paraproteinemic polyneuropathy were screened for reactivity with nerve and brain glycolipids by ELISA and/or a thin-layer-chromatogram-overlay technique. The myelin-associated glycoprotein (MAG) has been shown to be an antigen in many neuropathy patients with IgM gammopathy, but this study focused on seven neuropathy patients in which the IgM paraproteins had been shown not to react with this glycoprotein. Five of these seven had IgM that reacted with components in the acidic glycolipid fraction of human sciatic nerve, and three of these IgMs also reacted with components in the acidic glycolipid fraction of human brain. Little or no reactivity with glycolipids was detected for two patients with neuropathy and IgG gammopathy or for two with neuropathy and IgA gammopathy. The results suggest that neuropathy-patient IgM paraproteins not reactive with MAG often react with acidic glycolipids and thus define a subset of paraproteinemic neuropathies. Since the IgM paraproteins that react with MAG also react with acidic glycolipids of nerve, glycolipid antigens appear to be quite common among the IgM paraproteinemic neuropathies.
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PMID:Polyneuropathy with monoclonal gammopathy: glycolipids are frequently antigens for IgM paraproteins. 241 45

The major glycoprotein P0 from human and bovine peripheral nerves carries the L2/HNK-1 and L3 carbohydrate epitopes and is recognized by serum from patients with IgM gammopathy and polyneuropathy. Only serum from patients with reactivity toward the myelin-associated glycoprotein (MAG) was reactive with P0, while serum that did not react with MAG also did not recognize P0. Furthermore, the neural adhesion molecules L1, N-CAM, and J1 were also recognized by the serum that reacted with MAG, while the L3 carbohydrate-carrying cell adhesion molecule AMOG was not recognized. These observations indicate a restricted specificity in carbohydrate reactivity of IgM paraproteins and implicate yet another and, for the first time, peripheral myelin-specific glycoprotein in the pathogenesis of demyelinating neuropathy.
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PMID:Reactivity with the peripheral myelin glycoprotein P0 in serum from patients with monoclonal IgM gammopathy and polyneuropathy. 245 90

Two cases of polyneuropathy with IgM gammopathy are reported. Myelin associated glycoprotein is the antigen for the monoclonal antibody in both of these patients. The same antigenic specificity has now been identified in other patients having a paraproteinemia with a polyneuropathy. These findings suggest the existence of a new syndrome characterized by: a) a primary demyelinating neuropathy; b) a monoclonal IgM antibody to a specific glycoprotein component of myelin, referred to as myelin associated glycoprotein (MAG). As in other humorally mediated autoimmune diseases, it is suggested that demyelination is caused by circulating anti-MAG antibodies. The role of immunosuppressive drugs and plasmapheresis is discussed.
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PMID:[Polyneuropathies and gammapathies: a form with antiglycoprotein MAG antibodies]. 619 5

In patients on regular dialysis treatment, uremic symptoms (anemia, osteopathy, myopathy, neuropathy, and disorders of carbohydrate, fat, and protein metabolism) may be partly due to an accumulation of low molecular weight (MW) proteins (10,000 to 60,000 daltons). We tested this hypothesis using membranes with a higher permeability than conventional Cuprophan membranes. The primary aim of the study was to test the cutoff of various hemofilters (Cuprophan [Highflux], polyamide [FH 20], cellulose acetate [Duoflux], and polyacrylonitrile [Hospal RP 7 + 8 and Asahi PAN]) under in vivo conditions. In addition the effects of hemofiltration on plasma low molecular weight protein concentrations, polyneuropathy, and autonomic insufficiency were also tested in a long-term (six-month) study using the membrane with the highest cutoff and most constant sieving coefficient, i.e., Highflux. Low MW proteins with a defined MW were used as marker substances. Sieving coefficients of beta 2-microglobulin, lysozyme, retinol-binding protein, alpha 1-glycoprotein, alpha 1-antitrypsin, prealbumin, albumin, and transferrin were determined during a four-hour hemofiltration (20 L ultrafiltrate). Proteins were analyzed using an immunodiffusion technique. In the long-term study, motor nerve conduction velocity, the Schellong test, and Valsalva maneuver were tested prior to and three and six months after hemofiltration therapy. Highflux, Duoflux, and FH 202 membranes were permeable to proteins with molecular weights up to 15,000 daltons, and the Highflux module had the most constant sieving coefficient during hemofiltration. In the six-month hemofiltration study with the Highflux filter, plasma beta 2-microglobulin and lysozyme decreased significantly as expected. Parameters of polyneuropathy and autonomic insufficiency were slightly improved.
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PMID:Elimination of low molecular weight proteins during hemofiltration. 681 37

The carbohydrate-deficient glycoprotein syndrome is a newly recognised genetic disorder characterised by mental retardation, liver disfunction during infancy, cerebellar ataxia and atrophy, polyneuropathy, growth retardation, stroke-like episodes, and the appearance of carbohydrate-deficient fractions of multiple glycoproteins in the serum. The neuroradiological findings have been known as features of olivopontocerebellar atrophy. However, whether the abnormalities in the cerebellum and brain stem progress after birth is not known. We have carried out serial CT and MRI on three Japanese patients with this syndrome at different ages. A small cerebellum, with peculiar enlargement of the cisterna magna, and a small brain stem are present in infancy and atrophy of the anterior vermis and from before backwards in the cerebellar hemispheres seem to progress throughout early childhood.
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PMID:Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome. 747 67


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