Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 46 year old woman had a relapsing-remitting course of hemiparesis, disorientation, paraparesis and seizures, followed by progressive dementia, spasticity and ataxia. Computed tomography at onset showed a parietotemporal hypodense area with diffuse mottled enhancement obliterating the lateral ventricle. Subsequent scans demonstrated symmetric periventricular non-enhancing hypodensities, progressive ventricular enlargement and atrophy. Adult metachromatic leukodystrophy was diagnosed on the basis of low leukocyte arylsulphatase A level and metachromatic material accumulation at neural nerve biopsy.
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PMID:Adult metachromatic leukodystrophy with an unusual relapsing-remitting course. 158 77

Glutamate is the major excitatory neurotransmitter of the central nervous system. Besides its importance in many physiological processes, increased glutamate release and subsequent excessive stimulation of the various glutamate receptors are thought to play critical roles in the pathophysiological mechanisms underlying many neurologic diseases. Experimental data suggest that blockade of glutamate receptors or inhibition of glutamate release has positive effects in many disease models. Glutamate antagonists are already in clinical use for the treatment of Parkinson's disease, epilepsy, spasticity, and neuropathic pain. Overall, glutamate antagonists have not been found clinically effective for neuroprotective treatment of cerebral ischemia or chronic neurodegenerative diseases, with one exception. Side effects of glutamate antagonists can be mainly attributed to central mechanisms and include psychosis, agitation, and disorientation. It is to be hoped that further development of new glutamate antagonists that block disease-relevant subtypes of glutamate receptors will lead to more effective drugs with fewer side effects.
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PMID:[Glutamate antagonists in neurology]. 1143 98

An 82-year-old man without notable medical history was admitted to our hospital following subacute deterioration of apettite, disorientation and strange behavior. There was spasticity of the right extremities without weakness. LDH and serum soluble IL2 receptor antibody levels were elevated, and as well as the protein level and IgG levels in the cerebrospinal fluid. CT scanning of the brain revealed a lesion at the left corona radiata. The patient's level of consciousness was worsening, and follow-up study of the brain showed a new lesion in the left occipital lobe. Intravascular lymphomatosis was therefore suspected. We performed a skin biopsy from two typical senile angiomas. In one of these biopsy specimens, a capillary hemangioma was present in the mid-reticular dermis and it was filled with abnormal B cells. The diagnosis of intravascular B cell lymphoma (IVL) was thus established. IVL is a rare subtype of extranodal diffuse large B cell lymphoma with a poor outcome. However, it is recently thought that if the diagnosis is established early, aggressive chemotherapy increases survival. Senile angioma is a skin eruption that is considered prevalent for the most part in elderly people. If a patient is suspected to have IVL, and there is no appropriate site of biopsy, it might be beneficial to try a skin biopsy aiming at senile angiomas for early diagnosis.
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PMID:Intravascular large B cell lymphoma diagnosed by senile angioma biopsy. 1258 32

Individuals with Rett syndrome (RS) present a vast array of orthopedic and neurological difficulties. Typical problems, which may need to be addressed, when treating this population are functional limitations, low cardiovascular capacity, hypotonia, ataxia, apraxia, loss of transitional movements, spasticity, scoliosis and/or kyphosis, loss of ambulation, loss of hand function, foot deformities, and spatial disorientation. Coping with such difficulties and overcoming the associated limitations carry a wearisome task for the individual with Rett as well as for her family. An informed and intensely applied physical therapy regime can help the child and the family cope and even overcome the above-mentioned limitations. The present article presents some insights regarding the intervention with individuals with RS, an overview of typical neuromuscular problems associated with RS, and appropriate suggestions pertaining to clinical intervention that have been found to contribute to this population's well-being. The information presented is mainly based on the clinical knowledge of the authors.
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PMID:Physical therapy intervention for individuals with Rett syndrome. 1704 20

The Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway caused by mutations in the mitochondrial ornithine transporter, ORNT1 (SLC25A15). In general, the majority of patients with HHH syndrome come to medical attention during infancy or early school years with symptoms such as learning disabilities, changes in cognitive development, spasticity, or liver dysfunction. In this report, we describe a 35-year-old male of Indian descent who was diagnosed with HHH syndrome after he presented to the emergency room with gastroenteritis, disorientation, and slurred speech. Molecular analysis revealed that this patient was heterozygous for two ORNT1 mutations, p.[Gly220Arg(+)Arg275X] (c.[658G>A(+)823C>T]) that had been previously reported in homozygous probands who presented during the first year of life. Cellular studies revealed that the ORNT1 p.Gly220Arg mutation was nonfunctional but targeted to the mitochondria. Given that this patient was a successful college graduate on a vegetarian diet without a prior history of learning or neurological impairment, additional factors such as gene redundancy, environmental, and epigenetic factors may have contributed to the delay in onset of presentation and lack of any previous symptoms. To the best of our knowledge, this is the first reported case of an adult-onset HHH syndrome presentation without a prior history of neurological or cognitive deficiency.
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PMID:Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications. 2343 Aug 80

Cases of cycad toxicosis have been described in dogs that have presented with gastrointestinal, hematologic, hepatic, neurological, and carcinogenic signs. This case report describes brain magnetic resonance imaging (MRI) lesions in a dog with gastrointestinal and neurological signs secondary to cycad toxicosis. A 5-year-old neutered female Jack Russell terrier presented with a 2-days history of gastroenteric signs, progressive generalized tremors, and altered mentation after possible ingestion of Cycad revoluta. Neurologic examinations revealed disorientation, a wide-based stance, severe spasticity of the four limbs, intention tremors, severe cerebellar ataxia, decreased postural reactions in all four limbs, and intermittent decreased menace response in both eyes-all of which are consistent with a multifocal intracranial disorder involving the forebrain and cerebellum. A brain MRI showed diffuse/ill-defined, intra-axial bilateral and symmetrical changes, predominantly affecting the white matter of the cerebral hemispheres, thalamus, hippocampus, and cerebellum. A presumptive diagnosis of toxic-metabolic encephalopathy was made. Medical management of the clinical signs was performed, and the dog was discharged 7 days after presentation with no neurological abnormalities. Two and 8 weeks later, complete blood count (CBC), chemistry, electrolytes, and 8 weeks later brain MRI were performed, revealing no abnormalities. To the best of the authors' knowledge, this is the first case report describing lesions detected by brain MRI secondary to cycad toxicosis as well as a complete resolution of brain lesions on a follow-up MRI 8 weeks later.
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PMID:Presumptive Cycad Toxicosis in a Dog. Clinical and Magnetic Resonance Imaging Findings: A Case Report. 3292 64