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)

A 33-year-old man with Refsum disease exhibited clinical features of night blindness, dysequilibrium, hearing loss, itchy dry skin, symmetrical polyneuropathy, distal muscle weakness, pes cavus, and hammer toe. His total serum protein was increased, nerve conduction velocities were slow, and serum phytanic acid levels were high. Dietary restriction of phytol resulted in a decrease in serum phytanic acid without any visual and autitory changes; however, coordination, skin lesions, and nerve conduction velocities definitely improved.
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PMID:Heredopathia atactica polyneuritiformis (phytanic acid storage disease). A new case with special reference to dietary treatment. 4 80

Mutations in the serum protein transthyretin (TTR) cause amyloidosis involving the peripheral nerves, heart, and other organs. In Ashkenazic Jews, the only TTR variant described to date has been TTR Ile 33. We have studied DNA from another Ashkenazic Jewish kindred with familial amyloidotic polyneuropathy. Single-strand conformation polymorphism analysis, DNA sequencing, and restriction analysis indicated that this kindred has the TTR Pro 36 variant, previously described only in a Greek kindred.
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PMID:Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred. 135 85

Prealbumin is a serum protein which plays an important role in plasma transport of retinol and thyroxine. The accumulation of a variant prealbumin is associated with a hereditary disorder, familial amyloidotic polyneuropathy (FAP). In situ hybridization with a mouse prealbumin gene cDNA probe was carried out in mouse fibroblasts. Analysis of 114 R-banded metaphases showed that 13% of the total grains were located on chromosome 4 and 46% of the grains on this chromosome were in the region C6-D1. Linkage and syntenic group analysis showed that the prealbumin gene (Ttr) is located between two syntenic groups on mouse chromosome 4, which corresponded to two syntenic groups present on human chromosomes 1 and 9.
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PMID:Chromosomal localization of the mouse prealbumin gene (Ttr) by in situ hybridization. 142 7

A rare form of plasma cell dyscrasia characterized by associated polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes has been termed the POEMS syndrome. The pathophysiology is unknown; plasma cell dyscrasia is essential; secondary manifestations are unexplained. We report a 67-year-old man with a 7-month history of progressive weakness and numbness of the legs. Clinical examination revealed sensorimotor polyneuropathy, predominantly affecting the lower extremities, hepatomegaly, and skin haemangiomas. Additional investigations disclosed IgG-lambda monoclonal serum protein, endocrine abnormalities, elevated cerebrospinal fluid protein level and an osteoblastic lesion of the lumbar vertebra. Biopsy of the osteosclerotic vertebra showed a marked lymphoplasmocytic infiltrate. MRI of the liver disclosed two haemangiomas; this association has not been reported previously.
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PMID:Polyneuropathy with osteosclerotic myeloma--POEMS syndrome. A case report. 154 70

A mutant variant of the serum protein transthyretin (TTR-met30) appears to be a necessary but not sufficient condition for the development of familial amyloidotic polyneuropathy (FAP). We have studied a number of serum protein markers (alpha 1-antitrypsin, properdin factor B, C3, C4A, C4B, haptoglobin, transferrin and group-specific component) in FAP patients and healthy controls in an attempt to identify additional pathogenic factors which may influence the risk for developing FAP in male and female patients as well as the age of onset of the disease. Statistically significant associations were found in the complement systems C3 and C4A. The C3F variant was significantly increased in all FAP patients with a relative risk (RR) of 2.0, more pronounced in female patients (RR = 2.6) and patients with an early onset of the disease (RR = 4.5). In the FAP patients only the variants A3 and A4 were found in the C4A system. C4A3 was found in all patients, which was significantly higher than in the controls. The remaining serum protein systems showed no statistically significant associations with FAP. The results suggest that genetic variants of complement factors C3 and C4A may interact with the mutant TTR-met30 by modifying the expression and onset of FAP.
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PMID:Association of C3 and C4A complement types with familial amyloidotic polyneuropathy. 226 53

The purpose of this study was to characterize the nature and the origin of the Alzheimer's disease amyloid deposits. We used an amyloid antiserum to screen a human liver expression library. A positive clone was sequenced and found to code for the serine protease inhibitor alpha 1-antichymotrypsin, an acute phase serum protein. Thus, this protein is a second component of the brain amyloid in addition to the beta-protein. In order to determine whether the inhibitor originated from the serum or was made in the brain, we performed Northern blots on tissue from control and Alzheimer brain and found that alpha 1-antichymotrypsin RNA is present in the brain and that the diseased brain contained larger amounts than the controls. Immunocytochemistry and in situ hybridization show the astrocytes to produce the inhibitor, mainly around senile plaques, alpha 1-antichymotrypsin is only associated with the amyloid deposits of the beta-protein kind in normal aging of man and monkeys. Alzheimer's, Down's syndrome and hereditary cerebral hemorrhage with amyloidosis of Dutch origin, but not in primary and secondary amyloidosis or familial amyloidotic polyneuropathy. The specific association between alpha 1-antichymotrypsin and the beta-protein prompted us to suggest a role for this serine protease inhibitor in the proteolytic processing of the beta-protein precursor.
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PMID:The protease inhibitor, alpha 1-antichymotrypsin, is a component of the brain amyloid deposits in normal aging and Alzheimer's disease. 266 47

The authors report a case of acute polyneuropathy revealing a solitary osseous plasmacytoma with osteo-dense and osteolytic bone lesions. Initially, the rapid progression of the sensory and motor loss led to treatment by plasma exchanges and irradiation of the plasmacytoma. Four months later, despite a significant improvement of the neurological condition, serum protein electrophoresis continued to show a peak of monoclonal immunoglobulin. Chemotherapy with cyclophosphamide and prednisone was administered for one year whilst the neuropathy continued to regress. This case, which presents many classical features of plasma cell dyscrasia (polyneuropathy with albumino-cytological dissociation, radiological osseous condensation, low concentrations of lambda light chain protein), illustrates some unusual features of solitary plasmacytomas associated with peripheral neuropathy: the young age of our patient, an acute progression of the neuropathy in the early stages, tumoral localisation in the diaphysis of a long bone.
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PMID:[Polyneuropathy and solitary bone plasmacytoma. A new case]. 332 51

Cerebrospinal fluid (CSF)/serum concentration gradients (Q) of individual proteins (albumin, IgG, alpha 2-macroglobulin) have been studied in controls and in patients in whom the lumbar CSF flow is altered (medullary compression) or the blood-CSF barrier (BCB) function impaired (acute idiopathic polyneuropathy and acute meningoencephalitis). The analysis of relationships among protein Q has been performed by total and multiple regressions and the actual BCB permeability to individual proteins has been interpreted according to the accepted theoretical porous or vesicular BCB models. The exponential Q-IgG vs. Q-albumin total regression, and the poor Q-alpha 2-macroglobulin vs. Q-albumin regression found in controls, together with the different multiple regressions among proteins and the high Q-IgG vs. Q-albumin partial regression coefficients found in medullary compression, acute idiopathic polyneuropathy and acute meningoencephalitis, indicated that different permeability mechanisms can be postulated. Heterogeneous, fairly independent permeability BCB mechanisms maintain the normal CSF/serum protein concentration gradient. Pinocytotic vesicles or pores of radius exceeding 1000-1500 A, probably located at the capillary endothelium, account for the main serum-derived CSF protein fraction(s) with large hydrodynamic radius (R). A more selective endothelial vesicular transport with a radius of 250 A transfers a negligible amount of protein from serum into CSF. Proteins with small R also enter the CSF through a set of selective pores of radius 120 A, probably at the level of the choroidal epithelium. Pinocytotic vesicles with a radius of 250 A and increased rate of formation induce the accumulation of proteins below an obstruction of lumbar CSF flow. An increased formation rate of vesicles with a radius of 450 A can explain the increased capillary permeability in nerve roots in acute idiopathic polyneuropathy. Loss of selectivity was the main feature of BCB in acute meningoencephalitis, and it seemed to be due to pores or vesicles with a radius larger than 1000-1500 A. The heterogeneity of BCB mechanisms must be taken into account when the intrathecal synthesis of a protein, also derived from serum (for example IgG), has to be measured.
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PMID:Heterogeneous models for blood-cerebrospinal fluid barrier permeability to serum proteins in normal and abnormal cerebrospinal fluid/serum protein concentration gradients. 620 5

A 56-year-old man gradually developed paresthesia and muscular weakness of the left hand and feet for two years. On admission, neurological examination showed predominantly sensory polyneuropathy. Electrophysiological study and sural nerve biopsy demonstrated segmental demyelination, but any underlying congenital, toxic, metabolic or neoplastic cause was failed to reveal. The serum IgM level was 576 mg/dl, while IgG and IgA were normal. An immunoblot analysis and ELISA showed serum IgM antibody that reacted with human MAG. Serum IgM M-protein, however, was detectable not by conventional serum protein electrophoresis and immunoelectrophoresis, but by immunofixation. Anti-MAG antibodies should be evaluated in the patients with slowly progressive demyelinating polyneuropathy of unknown etiology, even if no serum M-protein is detected by conventional methods. Serum M-protein may play a role of pathogenesis of demyelination, and immunofixation method could be beneficial to detect small amount of M-protein.
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PMID:[Polyneuropathy with IgM-antibody to myelin-associated glycoprotein without detectable M-protein by conventional analysis--report of a case]. 768 55

Familial amyloidotic polyneuropathy (FAP) is a genetic disease characterized by systemic amyloid deposition particularly in the peripheral nervous system. These deposits are composed mainly of a mutant form of the serum protein transthyretin (TTR) having a methionine for valine substitution at position 30-TTR Met 30. The factors involved in the formation of these deposits are unknown. The existence of animal models for FAP should allow elucidation of these factors. As one approach to the development of animal models for amyloidogenesis in FAP, we have constructed recombinant retrovirus vectors, carrying the full length human cDNA for either TTR or TTR Met 30 under the control of the Moloney murine leukemia virus (MoMLV) LTR element. After transfection of the packaging cell line, psi 2, viral stocks were used to infect a rat hepatoma cell line, H56, mouse fibroblast cell line, NIH3T3, and mouse primary fibroblasts. H56 cells efficiently secreted both TTR and TTR Met 30 as assessed by immunoprecipitation and ELISA, whereas NIH3T3 fibroblasts appeared not to release these proteins under the conditions tested. Primary fibroblasts secreted the mutant protein as assessed by ELISA. These genetically modified cells can be grafted into animals for in vivo study of amyloidogenesis, as well as be used in culture to investigate factors that might regulate the rate of amyloid deposition.
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PMID:Retrovirus-mediated gene transfer of transthyretin and transthyretin-methionine 30: a potential tool for the study of amyloidogenesis. 826 24


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