Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

While rare, Fahr's disease should be considered as a differential diagnosis for seizures, movement disorders, or cognitive impairment in tropical settings. Classically, bilateral calcification of the basal ganglia is seen on CT. Endemic infections, metabolic, and toxic causes should be excluded. Treatment using Levodopa is often beneficial.
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PMID:Fahr's disease: a rare neurological presentation in a tropical setting. 2650 11

We describe a 70-year-old man who, after a viral encephalitis associated with pneumonia, progressively developed a parkinsonism associated with lethargy. Encephalitis manifested with persistent hiccups, seizures and impairment of consciousness. After 2 weeks, the initial neurologic symptoms subsided and the patient progressively developed movement disorders (rigidity and bradykinesia, resistant to L-DOPA), lethargy and behavioral hypersomnia. Magnetic resonance imaging showed thalamic and hippocampal signal abnormalities, immunohistochemistry on a mouse brain substrate revealed serum autoantibodies binding to the brainstem neuropil. Polysomnographic monitoring was consistent with a very severe disruption of sleep: the sleep-wake cycle was fragmented, and the NREM-REM ultradian cycle was irregular. Intravenous immune globulin therapy resulted in the complete reversal of the movement and the sleep disorders. Our observation confirms that parkinsonism and sleep disorders may be consequences of encephalitis, that an immune-mediated pathogenesis is likely, and, consequently, that immunotherapy can be beneficial in these patients. The polysomnographic monitoring suggests that lethargia, rather than a mere hypersomnia, is the result of a combination between sleep disruption and altered motor control.
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PMID:Post-Encephalitic Parkinsonism and Sleep Disorder Responsive to Immunological Treatment: A Case Report. 2711 63

We report the finding of increased F-DOPA uptake in the brain parenchyma surrounding a temporoparietal low-grade diffuse astrocytoma and corresponding to transient seizure-induced MRI abnormalities. There was concomitant markedly increased tumoral uptake. This F-DOPA PET phenomenon may represent increased amino acid transport induced by seizures. In the setting of brain tumor imaging, increased F-DOPA uptake of low-grade epileptogenic tumors and adjacent brain parenchyma should be carefully interpreted in light of clinical and electroencephalographic findings related to seizure activity.
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PMID:Seizure-Induced Increased 18F-DOPA Uptake in a Child With Diffuse Astrocytoma and Transient Brain MRI Abnormalities Related to Status Epilepticus. 2946 92

Metabotropic glutamate receptor 5 (mGluR5) is a drug target for central nervous system disorders such as fragile X syndrome that involve excessive glutamate-induced excitation. We tested the efficacy of a novel negative allosteric modulator of mGluR5 developed by Merz Pharmaceuticals, MRZ-8456, in comparison to MPEP and AFQ-056 (Novartis, a.k.a. mavoglurant) in both in vivo and in vitro assays in a mouse model of fragile X syndrome, Fmr1KO mice. The in vivo assays included susceptibility to audiogenic-induced seizures and pharmacokinetic measurements of drug availability. The in vitro assays included dose response assessments of biomarker expression and dendritic spine length and density in cultured primary neurons. Both MRZ-8456 and AFQ-056 attenuated wild running and audiogenic-induced seizures in Fmr1KO mice with similar pharmacokinetic profiles. Both drugs significantly reduced dendritic expression of amyloid-beta protein precursor (APP) and rescued the ratio of mature to immature dendritic spines. These findings demonstrate that MRZ-8456, a drug being developed for the treatment of motor complications of L-DOPA in Parkinson's disease and which completed a phase I clinical trial, is effective in attenuating both well-established (seizures and dendritic spine maturity) and exploratory biomarker (APP expression) phenotypes in a mouse model of fragile X syndrome.
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PMID:Rescue of Fmr1KO phenotypes with mGluR5 inhibitors: MRZ-8456 versus AFQ-056. 3012 40

Temporal lobe epilepsy is the most common focal epilepsy in adults and often causes pharmacoresistant seizures. Magnetic resonance imaging (MRI) and PET studies have widely demonstrated a number of morphological and molecular abnormalities in epilepsy. However, considering the dopaminergic system, only a bilateral 18F-DOPA uptake reduction within the basal ganglia has been described. We report the unusual finding of increased 18F-DOPA uptake in a patient with focal recurrent seizures and "deja vu" experiences in the setting of cortical swelling detected at MRI exam. The final diagnosis was in in keeping with hippocampal sclerosis, confirmed during follow-up MR exams. In this case 18F-DOPA uptake may represent increased dopamine transport induced by seizures. Nuclear medicine physicians and radiologists should be aware of clinical and electroencephalographic findings when interpreting brain areas of tracer uptake, which are not always related to malignancy.
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PMID:Unusual diagnostic findings in temporal lobe epilepsy: A combined MRI and 18F-dopa case study. 3269 48


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