Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of Alexander's disease in a 39-year-old man is reported. The clinical course was characterized by headaches and cerebellar gait for 6 months. A state of acute unconsciousness followed, lasting 2 days. Subsequently, dysfunction of the lower cranial nerves on the left-side, left-sided motor incoordination, and a right-sided spastic hemiplegia were found. The patient died 49 days after an acute incident of lung embolism. Neuropathologically generalized and focally pronounced Rosenthal fibers in subpial, subependymal, and perivascular regions were found. They were especially predominant in the brain stem and cerebellum. Atypical fibrillary glia, moderate patchy demyelination, and circumscribed cystic necrosis in the brain stem were also observed.
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PMID:Alexander's disease in an adult: clinicopathologic study of a case and review of the literature. 630 23

The recent discovery of heterozygous de novo mutations in the glial fibrillary acidic protein (GFAP) gene as the cause of infantile and juvenile Alexander disease has shed new light on the long-standing debate whether the adult subtype has the same etiology as infantile and juvenile Alexander disease. A 40-year-old man presented with subacute left hemiplegia and ataxia. Cranial MRI revealed disseminated patchy white matter changes involving the corpus callosum, basal ganglia and brainstem. CSF investigation demonstrated elevated total protein but was otherwise normal. Mutation analysis of the GFAP gene was performed in the patient, his mother and healthy brother. A novel heterozygous mutation in exon 4, 681G-->C, predicting an amino acid substitution E223Q in the rod region of GFAP was detected in the patient and his mother but not in his healthy brother or 150 control chromosomes. We conclude that the patient is actually afflicted with Alexander disease. Mutation analysis of GFAP should be considered in patients with remitting neurological deficits, disseminated white matter lesions and absence of inflammatory CSF changes.
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PMID:A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? 1294 15