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 20-year-old woman was admitted to the Hospital because of tetraparesis and respiratory failure, requiring mechanical ventilation. No disturbances of consciousness were associated. She had a residual left lower limb paresis from the age of 14, lasting unchanged until this final episode of bulbar paralysis. She did not recover: death occurred 3 months later. Neuropathological examination revealed Rosenthal fibers in the gray and white matter with typical perivascular and subpial distribution. Areas of mild demyelination were found in the periventricular white matter of the centrum ovale and in the hilum of the nucleus dentatus. In the brain stem the highest density of Rosenthal fibers was found in the medulla where the deposits extended deeply into parenchyma. The relationship of this case with Alexander's disease is discussed.
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PMID:Diffuse Rosenthal fiber formation in adults. A case report. 741 17

We present a case of Alexander's disease (AD) in a Bernese mountain dog. The male dog had a clinical history of tremors of the hind legs and posterior weakness, which deteriorated rapidly to posterior paresis and tetraparesis. After a disease duration of 4 weeks the dog was euthanatized at 13 weeks of age. Macroscopically the brain showed moderate enlargement of the lateral ventricles. Histologically there was marked proliferation of astrocytes with abnormally large cell bodies in the white matter of the brain and the white and gray matter of the spinal cord. In these regions numerous round, club-shaped, or elongated deposits consistent with Rosenthal fibers (RFs) were found. They were most prominent in perivascular, subependymal, and subpial areas where they were perpendicularly arranged. Additionally there was considerable loss of myelin. Immunohistologically the RFs were positive for glial fibrillary acidic protein and alpha B-crystallin. Under the electron microscope the RFs were found to be located in the cell bodies and processes of astrocytes and appeared as osmiophilic irregularly formed bodies of uneven size with distinct borders that were tightly associated with glial filaments. The histological, immunohistochemical, and ultrastructural findings of this canine case of AD are identical with those in human cases.
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PMID:Alexander's disease in a Bernese mountain dog. 878 55

Alexander's disease, a leukodystrophy characterized by Rosenthal fibers (RFs) in the brain, is categorized into three subtypes: infantile, juvenile, and adult. Although most are sporadic, occasional familial Alexander's disease cases have been reported for each subtype. Hereditary adult-onset Alexander's disease shows progressive spastic paresis, bulbar or pseudobulbar palsy, palatal myoclonus symptomatologically, and prominent atrophy of the medulla oblongata and upper spinal cord on magnetic resonance imaging. Recent identification of GFAP gene mutations in the sporadic infantile- and juvenile-onset Alexander's disease prompted us to examine the GFAP gene in two Japanese hereditary adult-onset Alexander's disease brothers with autopsy in one case. Both had spastic paresis without palatal myoclonus, and magnetic resonance imaging showed marked atrophy of the medulla oblongata and cervicothoracic cord. The autopsy showed severely involved shrunken pyramids, but scarce Rosenthal fibers (RFs). Moderate numbers of Rosenthal fibers (RFs) were observed in the stratum subcallosum and hippocampal fimbria. In both cases, we found a novel missense mutation of a G-to-T transition at nucleotide 841 in the GFAP gene that results in the substitution of arginine for leucine at amino acid residue 276 (R276L). This is the first report of identification of the causative mutation of the GFAP gene for neuropathologically proven hereditary adult-onset Alexander's disease, suggesting a common molecular mechanism underlies the three Alexander's disease subtypes.
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PMID:Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. 1244 32

A 1-year- and 11-month-old spayed female toy poodle had showed progressive ataxia and paresis in the hindlimbs since 11 months old. Magnetic resonance imaging revealed high signal intensity on T2-weighted and fluid-attenuated inversion recovery images at the thoracic and lumbar spinal cord. The dog's neurological condition slowly deteriorated and flaccid tetraparesis was exhibited. At 4 years and 11 months old, the dog died of respiratory failure. On postmortem examination, eosinophilic corkscrew bundles (Rosenthal fibers) were observed mainly in the thoracic and lumbar spinal cord. Histological features were comparable to previously reported cases with Alexander disease. This is a first case report to describe the clinical course and long-term prognosis of a dog with Alexander disease.
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PMID:Long-term survival of a dog with Alexander disease. 3305 53