Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 34-year-old woman presented with numbness in both lower limbs and weakness of right lower limb twenty six days after a primary varicella infection (chickenpox) associated with fever and rash. Neurological examination revealed numbness of both lower limbs, more severe on the right side, mild paresis of the right lower limb, particularly in the tibialis anterior muscle, and absent ankle jerk on the right. After admission, hyperalgesia appeared at the thoracic 10-12 levels. The T2-weighted MRI of the spinal cord revealed a high signal intensity lesion at the Th 9 level and gadolinium enhancement was seen in that lesion as well as in the bilateral posterior radicles and the left anterior radix at the Th 9 level. On needle electromyography, fasciculation was found in the right tibialis anterior and gastrocnemius muscles. The temporal dispersion of F-wave was seen in the right peroneal nerve. We diagnosed the patient suffered from radiculomyelitis following the primary varicella infection. The secondary immunological mechanism rather than direct viral invasion is most likely in our patient, because (1) neither VZV DNA, nor anti-VZV antibody was positive in the CSF, and (2) the duration was relatively long between the development of skin rash and that of neurological symptoms.
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PMID:[A case of radiculomyelitis following chickenpox in adulthood]. 1058 25

Defined in 1975, branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder consisting of branchial arch anomalies, hearing loss, and urinary tract malformations. It is the prototype of the non-chromosomal syndromes that have branchial arch anomalies as major clinical manifestations: BOR, branchio-otic (BO), branchio-otic-facial (BOF), and Townes-Brock syndromes. Subsequently, several clinical manifestations have expanded its phenotype. Retrospective analysis of 31020 families evaluated between January 2, 1982 and December 31, 1996 at the genetic clinics of the University of South Florida, showed seven probands with BOR/?BOR syndrome. Four of the probands and affected relatives had manifestations that further expanded the phenotype: gustatory lacrimation, hypospadias, imperforate anus, osteosclerosis, microcephaly, hypodontia, congenital vocal cord paresis, and congenital incomplete fixation of the transverse colon. Thus, BOR/ ?BOR syndrome appears to be a clinically and genetically heterogeneous multiorgan/system entity that manifests itself predominantly during organogenesis. Clinicians and researchers alike should be cognizant of the expanded phenotype and heterogeneity, while in the DNA laboratories the latter will be sorted out.
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PMID:New' manifestations of BOR syndrome. 1063 49

An experimental model of rabies was established in the fruit-eating bat species Artibeus jamaicensis. The infections caused by CVS-N2c and CVS-B2c, which are both stable variants of CVS-24, were compared after inoculation of adult bats in the right masseter muscle. CVS-N2c produced neurologic signs of rabies with paresis, ataxia, and inability to fly, while CVS-B2c did not produce neurologic signs. Bats were sacrificed and the distribution of rabies virus antigen was assessed in tissue sections with immunoperoxidase staining. Both viruses spread to the brain stem and bilaterally to the trigeminal ganglia by days 2 to 3. CVS-N2c had disseminated widely in the central nervous system (CNS) by day 4 and had involved the spinal cord, thalamus, cerebellum, and cerebral cortex. CVS-B2c had infected neurons in the spinal cord on day 5 and in the cerebellum, thalamus, and cerebral cortex on day 6. Infected pyramidal neurons of the hippocampus were observed on day 5 in CVS-N2c infection, but infected neurons were never noted in the hippocampus in CVS-B2c infection. CVS-N2c infected many more neurons and more prominently involved neuronal processes than CVS-B2c. CVS-N2c spread more efficiently in the CNS than CVS-B2c. Morphologic changes of apoptosis or biochemical evidence of DNA fragmentation were not observed in neurons with either virus after this route of inoculation. The different neurovirulent properties of these CVS variants in this model were not related to their in vivo ability to induce apoptosis.
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PMID:Experimental rabies virus infection in Artibeus jamaicensis bats with CVS-24 variants. 1170 83

Feline leukemia virus (FeLV) infection is associated with distinct neoplastic, hematologic, and immunosuppressive diseases. Here we report on a novel neurologic syndrome in 16 cats infected with FeLV for more than 2 years. Clinical signs consisted of abnormal vocalization, hyperesthesia, and paresis progressing to paralysis. The clinical course of affected cats involved gradually progressive neurologic dysfunction invariably resulting in euthanasia. Microscopically, white-matter degeneration with dilation of myelin sheaths and swollen axons was identified in the spinal cord and brain stem of affected animals. Neither neoplastic nor hematologic diseases commonly associated with FeLV infection were present. Fungal and protozoal infection in one animal was suggestive of impaired immune competence. Immunohistochemical staining of affected tissues revealed consistent expression of FeLV p27 antigens in neurons, endothelial cells, and glial cells. Furthermore, proviral DNA was amplified from multiple sections of spinal cord as well as intestine, spleen, and lymph nodes. These findings suggest that in a proportion of chronically FeLV-infected cats, a virus evolved with cytopathic potential for cells in the central nervous system.
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PMID:Feline leukemia virus-associated myelopathy in cats. 1224 63

Acrylamide monomer causes peripheral neurotoxicity, mutagenicity, clastogenicity, male reproductive toxicity, prenatal lethality, and endocrine-related tumors in rodents. Acrylamide (and/or its metabolite glycidamide) binds to dopamine receptors and spermatid protamines and inhibits activity of kinesin and dyneine, resulting in interference with neuronal intracellular transport and sperm motility. Glycidamide binds to various proteins and DNA. Acrylamide at low doses decreases litter size, with rats more sensitive than mice. At higher doses, sperm morphology and motility and neurotoxicity are affected, which decreases mating frequency. Acrylamide does not affect female reproduction (females exhibit neurotoxicity). Dominant lethal mutations cause decreased newborn litter size. The mechanisms of action appear to be: (1) acrylamide/glycidamide binding to spermatid protamines, causing dominant lethality and effects on sperm morphology; and (2) acrylamide binding to motor proteins, causing distal axonopathy, including hindlimb weakness/paresis, and effects on mounting, sperm motility, and intromission. Glycidamide-induced mutations appear to play no role in reproductive or neurologic toxicity.
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PMID:Effects of acrylamide on rodent reproductive performance. 1250 53

Yeast-derived recombinant DNA hepatitis B vaccine usage has been widely accepted since the early 1990s, especially for high-risk patients. Severe adverse effects have been reported infrequently. Certain neurological complications raise concern for hepatitis B vaccine: central nervous system demyelination, acute myelitis, acute cerebellar ataxia, and various peripheral mononeuropathies. Case reports on tinnitus, hearing loss, and vestibular damage are extremely scarce. The case presented here concerns a professionally active nurse, born in 1953, with a medical history of progressive renal failure and hemodialysis. Eleven hours after a second injection of the hepatitis B vaccine Engerix B, an acute left-sided tinnitus occurred and, a few hours later, severe left hearing loss and intense vertigo. Tinnitus and the sensation of vertigo regressed fairly quickly, but the hearing loss and the vestibular paresis were permanent. Increased interpeak intervals on auditory brain responses and lack of recruitment suggested that the lesion probably is located at the level of cranial nerve VIII. From a medicolegal point of view, this audiovestibular damage had to be considered an accident at work and not as an occupational disease.
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PMID:Acute tinnitus and permanent audiovestibular damage after hepatitis B vaccination. 1497 38

X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34). Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.
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PMID:X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report. 1583 83

Two families of dogs (Australian cattle dogs and Shetland sheepdogs) with an inherited "spongiform leukoencephalomyelopathy" were identified, with widespread vacuolation of white matter of the brain and spinal cord. Affected dogs of both breeds developed tremors at 2-9 weeks of age followed by progressive neurological worsening with ataxia, paresis, paralysis, spasticity, and cranial nerve dysfunction. The modes of inheritance of both families were most likely maternal. The cerebrospinal fluid (CSF) analysis showed elevated ratio of 3-OH butyrate to acetoacetic acid. Mitochondrial DNA sequencing showed a G to A transition at 14,474 nt (G14474A, GenBank accession no. NC002008 ) that results in an amino acid change of valine-98 to methionine (V98M) of mitochondrial encoded cytochrome b. Western blot analysis showed increased levels of core I and core II but decreased level of cytochrome c1 of the complex III and cytochrome c oxidase of the complex IV of the respiratory chain.
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PMID:Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b. 1602 96

We present a case of a patient who received nitrous oxide on two occasions within a period of 8 weeks and who subsequently developed a diffuse myelopathy, characterized by upper extremity paresis, lower extremity paraplegia and neurogenic bladder. Laboratory testing revealed hyperhomocysteinaemia and low levels of vitamin B(12). Because of this uncommon clinical presentation, we analysed the patient's DNA, and found a polymorphism in the MTHFR gene that is associated with the thermolabile isoform of the 5,10-methylenetetrahydrofolate reductase enzyme, which explained the myelopathy experienced by the patient after being exposed to nitrous oxide. Soon after initiating supplementary therapy with folic acid and vitamin B(12), the neurological symptoms subsided.
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PMID:Reversible nitrous oxide myelopathy and a polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase. 1636 Dec 98

X-linked myotubular myopathy is a congenital myopathy due to mutation in the MTM1 gene, encoding myotubularin. Most of the affected male neonates die early of respiratory failure. The female carriers are usually asymptomatic. The authors report a novel MTM1 mutation in a 77-year-old woman. She presented with progressive ptosis since childhood, proximal limb weakness, and a severe restrictive respiratory dysfunction with a hemidiaphragmatic paresis, leading to death at 84 years of age. The muscle biopsy showed centrally nucleated fibers and mitochondrial abnormalities. A stop mutation Leu498X in MTM1 gene was identified in the proband and in her two healthy daughters. The X-inactivation pattern was random in the proband's blood and muscle DNA, and in blood DNA from her two unaffected MTM1 mutation carrier daughters. Two large heteroplasmic deletions were also detected in the muscle mitochondrial DNA of the propositus, raising the question of their putative impact on the phenotype.
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PMID:Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. 1725 Oct 23


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