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)

The most important characteristic of the EEG in old age is the frequency decrease of background activity, which can be traced back to a lessening of cerebral oxygen uptake. One third of healthy test persons aged 60 or over also show temporal (usually left sided) slow wave groups. The degree of EEG changes in cerebro-vascular insults depends on the nature and the localization of these disturbances. Temporary clinical and electroencephalographic focal seizure symptoms are observed, in particular, in circulatory disturbances within the temporo-parieto-occipital territory. Recurring epileptic seizures which start only in old age usually have either a vascular or a tumoral cause. During the attack-free intervals EEG spikes or sharp waves may be less frequently recorded than in younger test persons. Thanks to its highly typical EEG pattern, Creutzfeldt-Jakob subacute spongiform encephalopathy can be distinguished from other presenile or senile affections of the brain.
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PMID:[The EEG in the aged]. 33 99

Gray tremor (gt) is an autosomal recessive mutation in the mouse linked to caracul (Ca) on chromosome 15. The complex mutant phenotype includes pigmentation defects, tremor, seizures, hypo- and dysmyelination in central and peripheral nervous systems, spongiform encephalopathy, and early death. The heterozygote (+/gt) is phenotypically normal but develops a mild spongiform encephalopathy from 2 months of age onward. The pigmentation and myelination disorders indicate that the gt genetic locus is active neonatally and probably earlier. This report focuses mainly on the later-expressed vacuolating disorder, which most closely mimics in tissue distribution, histopathology, and ultrastructure the spongiform encephalopathies caused by unconventional transmissible agents. This lesion was produced in genetically normal mice in a transmission experiment: of 99 neonatal mice inoculated intracerebrally with gt/gt brain homogenate, all 7 mice of three strains (BALB/cBy, C3HeB/FeJ, and C57BL/6J) allowed to survive for the unusually long interval of 682-721 days after inoculation, developed spongiform changes distributed as in the mutant phenotype. The gray tremor mutant presents a naturally occurring spongiform encephalopathy whose expression is determined by the interaction of genetic factors and a transmissible agent.
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PMID:Transmissible spongiform encephalopathy in the gray tremor mutant mouse. 385 46

Spontaneously epileptic rat (SER) is a homozygote for both tremor (tm) and zitter (zi) genes and exhibits epilepsy-like seizures and spongiform encephalopathy. Genetic linkage analyses revealed that the tm and zi loci were tightly linked to the synaptobrevin-2 (Syb2) on chromosome 10 and the prion protein (Prnp) on chromosome 3, respectively. The genomic DNA sequences of Syb2 of the tm/tm (TRM) rats and exon 2 of the Prnp of the zi/zi (ZI) rats were identical to those of a control rat strain WTC. In addition, no difference was detected for expression of the Syb2 and Prnp on the Northern blot analyses of TRM, ZI and WTC brain, suggesting that the Syb2 and Prnp genes are not the tm and zi, respectively. The assignments of tm and zi to rat chromosome 10q24 and 3q35, however, will be the first step towards the positional cloning of the genes.
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PMID:Tremor and zitter, causative mutant genes for epilepsy with spongiform encephalopathy in spontaneously epileptic rat (SER), are tightly linked to synaptobrevin-2 and prion protein genes, respectively. 817 98

Creutzfeldt-Jakob disease (CJD) is the most common subacute transmissible spongiform encephalopathy. Approximately 85% of the cases are sporadic. The remaining 15% consist of genetic and iatrogenic forms. We report a sporadic form of CJD with spinal cord involvement and a clinical manifestation characterized by dementia and cerebellar syndrome, myofasciculation with absent reflexes and seizures. The two last manifestations are rare. The clinical hypothesis was probable CJD which was confirmed with autopsy and immunohistochemistry. We conclude that CJD should always be suspected when rapidly progressive dementia occurs and the absence of pyramidal or extrapyramidal signs suggest a spinal cord and/or peripheral nerve involvement.
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PMID:[Creutzfeldt-Jakob disease: case report with spinal cord involvement]. 1173 47

Hashimoto's encephalopathy (HE) is a rare neurological complication of chronic lymphocytic thyroiditis. As its clinical presentation is aspecific, other etiologies of acute encephalopathy have to be ruled out. We report the case of a 29-year old woman with neuropsychiatric signs preceding coma, myoclonus and epileptic seizures. Clinical and electroencephalographic features were consistent with the diagnosis of new variant of Creutzfeldt-Jakob disease. However, high titres of antithyroid antibodies in serum directed towards the diagnosis of HE. Despite oral steroids, the patient died five months later. Neuropathological findings ruled out spongiform encephalopathy and disclosed aspecific activated microglia. Our observation suggests that this process could be involved in the pathogenesis of HE. Even in the absence of clinical dysthyroidism, HE diagnosis has to be suspected in the settings of acute encephalopathy associated with seric antithyroid antibodies.
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PMID:[Hashimoto's encephalopathy: an anatomicoclinical observation]. 1198 89

A six-year-old female Birman cat was referred to our clinic because of chronic progressive changes in behavior. Additionally, generalized vestibular ataxia and psychomotor seizures were noticed. A multifocal lesion in the forebrain as well as brainstem was suspected. Ancillary investigations such as complete blood cell count, serum biochemistry profile, urinalysis and cerebrospinal fluid examination revealed no significant abnormalities. Electroencephalography showed diffuse changes in the cortical activity. Feline spongiform encephalopathy was confirmed by histological brain examination and positive immunohistochemistry for PrPSc. This is the first time that a case of feline spongiform encephalopathy is diagnosed in Switzerland.
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PMID:[Feline spongiform encephalopathy: first clinical case in Switzerland]. 1244 5

Creutzfeldt-Jakob disease (CJD) is the most common transmissible human spongiform encephalopathy. Seizures and status epilepticus (SE) are an uncommon finding in CJD. We report a 64-year-old woman with rapid cognitive decline who had electroencephalographic (EEG) changes suggestive of nonconvulsive status epilepticus (NCSE). She was later diagnosed with sporadic CJD (sCJD). We also reviewed the literature for published cases on this topic. MEDLINE was employed to identify all published reports of CJD and SE. We identified 8 references with a total of 12 cases with CJD and NCSE. sCJD should be considered in the differential diagnosis of any patient who presents with rapid cognitive decline and EEG changes consistent with status epilepticus.
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PMID:Sporadic Creutzfeldt-Jakob disease presenting as nonconvulsive status epilepticus case report and review of the literature. 2043 May 17

Heroin exposure can cause various complications like seizures, stroke, spongiform encephalopathy, transverse myelopathy, plexopathy, compartment syndrome, rhabdomyolysis and renal failure due to various mechanisms. We report here a young male who smoked heroin for the first time and developed transverse myelitis, rhabdomyolysis and acute kidney injury requiring dialysis. His renal recovery was complete by four weeks, while neurological improvement occurred 8 to 12 weeks later. This case suggests a common pathogenic mechanism of heroin intoxication involving multiple systems of the body.
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PMID:Rhabdomyolysis, acute kidney injury and transverse myelitis due to naive heroin exposure. 2208 88

The contribution of oxidative stress to diabetic complications including neuropathy is widely known. Mitochondrial and cellular damage are associated with the overproduction of reactive oxygen species and decreased levels or function of the cellular antioxidant mitochondrial manganese superoxide dismutase (SOD2). We hypothesized that targeted SOD2 deletion in the peripheral nervous system using cre-lox technology under control of the nestin promoter would accelerate neuropathy in a type 2 model of diabetes, the BKS.db/db mouse. SOD2-deficient mice, however, demonstrated severe gait deformities and seizures and died by 20 days of age. Examination of SOD2 expression levels revealed that SOD2 was lost in brain and reduced in the spinal cord, but appeared normal in dorsal root ganglia and peripheral nerves in SOD2-deficient mice. These findings indicate incomplete targeted knockout of SOD2. Morphological examination revealed cortical lesions similar to spongiform encephalopathy in the brain of SOD2-deficient mice. No lesions were evident in the spinal cord, but changes in myelin within the sciatic and sural nerves including a lack of cohesion between layers of compact myelin were observed. Together, these results indicate that targeted neuronal SOD2 knockout using the nestin promoter results in severe central nervous system degeneration and perinatal lethality in mice. A specific peripheral nervous system-targeting construct is required to examine the consequences of SOD2 knockout in diabetic neuropathy.
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PMID:Neurodegeneration and early lethality in superoxide dismutase 2-deficient mice: a comprehensive analysis of the central and peripheral nervous systems. 2251 22

Creutzfeld-Jakob disease (CJD) is a rare neurodegenerative condition characterized by rapid progression and fatal outcomes. Patients with progressive dementia and associated atypical features should be investigated, especially with the MRI brain for CJD. Cortical ribboning on diffusion-weighted MRI images is a very crucial diagnostic sign for CJD. Here we present a case of a 52-year-old woman admitted to the hospital after a seizure episode and two-month history of altered mental status. She presented with a 40-minute episode of status epilepticus, necessitating admission to the intensive care unit. Head CT showed no acute intracranial abnormalities, and MRI showed generalized brain atrophy. Electroencephalography (EEG) demonstrated an intermittent slowing of the left hemisphere. Two weeks after admission, she got discharged. Four days later, she presented to the hospital after being found disoriented in a park. MRI showed ventricular dilation and a questionable focus of restricted diffusion in the left thalamus posteriorly. CJD protein panel was collected. Three days after discharge, she was brought to the hospital, and CJD protein testing revealed the presence of 14-3-3 protein, elevated T-tau, and negative real-time quaking-induced conversion (RT-QuIC). The National Prion Disease Surveillance Center reviewed her case, and the CJD diagnosis was confirmed.
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PMID:Creutzfeldt-Jakob Disease With Atypical Magnetic Resonance Imaging Features. 3328 71


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