Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Over a 5-year period, we investigated 77 consecutive patients (36 males, 41 females, mean age 40.9 years) referred to our hospital with the diagnosis of CNS vasculitis. Extensive workup including MRI, echocardiography, laboratory tests, angiography ( n=53), and biopsies at appropriate sites ( n=26) was performed based on individual history and symptoms. Prominent symptoms were stroke ( n=61), encephalopathy ( n=14), and headaches ( n=2). Vasculitis was finally diagnosed in 13 patients (17%) including isolated angiitis of the CNS ( n=3), giant cell arteritis ( n=4), and septic arteritis ( n=3). Thirty-two patients (42%) presented noninflammatory vasculopathies including moyamoya ( n=6), Sneddon's syndrome ( n=5), dissection ( n=4), CADASIL ( n=2), and collagen vascular disease ( n=9). Coagulopathy was found in 14 cases (18%) including antiphospholipid syndrome ( n=8) and APC resistance ( n=4). Other causes were cardiogenic embolism ( n=8), multiple sclerosis ( n=5), and migraine stroke ( n=3). Only a minority of patients referred for evaluation of suspected CNS vasculitis actually present with inflammatory vascular disease. Main differential diagnosis includes noninflammatory vasculopathies, coagulopathies, and cardiac disease. Since septic processes may be responsible for the symptoms, "blind" treatment with immunosuppressive agents should be strictly avoided.
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PMID:[Diagnosis and differential cerebral vasculitis diagnosis]. 1477 Feb 79

The purpose of the study was to examine the value of the non-invasive magnet resonance angiography (MRA) in the follow-up of cerebral vasculitis (CV) and vasculitis-like angiopathy. We performed follow-up MRA (TOF 3D), MRI and transcranial doppler ultrasound (TCD) in the patients with isolated angiitis of the CNS (2/6), Crohn-disease-associated CV (1/6), and reversible arterial vasoconstriction (RAV) of the CNS (1 migraine, 1 eclampsia and 1 toxic encephalopathy) (3/6). In all patients with RAV MRA showed a complete remission of the vascular alterations after treatment. In the patients with isolated angiitis of the CNS and Crohn-disease-associated CV, partly regressive and partly progressive changes were demonstrated. The MR-angiographically detectable vascular alterations corresponded to the clinical course of the disease, as well as to TCD in all our patients. Success of therapeutic procedures, the need and the intensity of further drug administration could be estimated. The MRA appears to be a valuable non-invasive method in the follow-up of patients with CV and RAV.
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PMID:Serial magnet resonance angiography in patients with vasculitis and vasculitis-like angiopathy of the central nervous system. 1525 78

Celiac disease (CD) long has been associated with neurologic and psychiatric disorders including cerebellar ataxia, peripheral neuropathy, epilepsy, dementia, and depression. Earlier reports mainly have documented the involvement of the nervous system as a complication of prediagnosed CD. However, more recent studies have emphasized that a wider spectrum of neurologic syndromes may be the presenting extraintestinal manifestation of gluten sensitivity with or without intestinal pathology. These include migraine, encephalopathy, chorea, brain stem dysfunction, myelopathy, mononeuritis multiplex, Guillain-Barre-like syndrome, and neuropathy with positive antiganglioside antibodies. The association between most neurologic syndromes described and gluten sensitivity remains to be confirmed by larger epidemiologic studies. It further has been suggested that gluten sensitivity (as evidenced by high antigliadin antibodies) is a common cause of neurologic syndromes (notably cerebellar ataxia) of otherwise unknown cause. Additional studies showed high prevalence of gluten sensitivity in genetic neurodegenerative disorders such as hereditary spinocerebellar ataxia and Huntington's disease. It remains unclear whether gluten sensitivity contributes to the pathogenesis of these disorders or whether it represents an epiphenomenon. Studies of gluten-free diet in patients with gluten sensitivity and neurologic syndromes have shown variable results. Diet trials also have been inconclusive in autism and schizophrenia, 2 diseases in which sensitivity to dietary gluten has been implicated. Further studies clearly are needed to assess the efficacy of gluten-free diet and to address the underlying mechanisms of nervous system pathology in gluten sensitivity.
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PMID:Neurologic presentation of celiac disease. 1582 33

Patients with migraine are at increased risk for white matter hyperintensities detected on magnetic resonance imaging. The presence of nonspecific white matter hyperintensities may cause uncertainty for physicians and anxiety for patients. The pathophysiology and long-term consequences of these lesions are unknown. Occasionally, white matter lesions in a migraineur may indicate an underlying disease such as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS), or central nervous system vasculitis. The ability to distinguish between nonspecific and disease-specific patterns of white matter hyperintensities in migraine sufferers is important for the practicing clinician.
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PMID:Migraine and white matter hyperintensities. 1600 47

Assessing the risk of stroke in persons with migraine is complicated by the intricate relationship between these two conditions. Both migraine and stroke are common and co-morbidity may, in some cases, be coincidental. Given the overlap of clinical symptoms in stroke and migraine, each condition may also mimic the other. Numerous studies have, however, shown that migraine is an independent risk factor for stroke both during, and remote from, the migraine attack. Women of childbearing age and those with aura are at greatest risk of migraine-related stroke. Additional risk of stroke in migraineurs occurs in those using oral contraceptive pills and who smoke cigarettes. Elevated blood pressure, an important stroke risk factor, is less common in migraineurs. Acquired antiphospholipid antibodies, not clearly a cause of migraine per se, may raise the risk of infarction in migraineurs. Hereditary conditions, including CADASIL (cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leukoencephalopathy), MELAS (mitochondrial myopathy, encephalopathy, lactacidosis and stroke) and hereditary haemorrhagic telangiectasia, appear to predispose to both migraine and stroke. Purported mechanisms for migraine-associated stroke include involvement of the vasculature (including vasospasm, arterial dissection and small vessel arteriopathy), hypercoagulability (elevated von Willebrand Factor, platelet activation) and elevated risk of cardioembolism (patent foramen ovale, atrial septal aneurysm). Triptans and ergotamines, used to treat acute migraine attacks, appear to be safe in low-risk populations. These medications should be avoided in persons with haemiplegic migraine, basilar migraine, vascular risk factor and prior cerebral or cardiac ischaemia.
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PMID:The risk of stroke in patients with migraine and implications for migraine management. 1609 50

Mitochondrial DNA (mtDNA) disease is an important genetic cause of neurological disability. A variety of different clinical features are observed and one of the most common phenotypes is MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes). The majority of patients with MELAS have the 3243A>G mtDNA mutation. The neuropathology is dominated by multifocal infarct-like lesions in the posterior cortex, thought to underlie the stroke-like episodes seen in patients. To investigate the relationship between mtDNA mutation load, mitochondrial dysfunction and neuropathological features in MELAS, we studied individual neurones from several brain regions of two individuals with the 3243A>G mutation using dual cytochrome c oxidase (COX) and succinate dehydrogenase (SDH) histochemistry, and Polymerase Chain Reaction Restriction Fragment Lenght Polymorphism (PCR-RFLP) analysis. We found a low number of COX-deficient neurones in all brain regions. There appeared to be no correlation between the threshold level for the 3243A>G mutation to cause COX deficiency within single neurones and the degree of pathology in affected brain regions. The most severe COX deficiency associated with the highest proportion of mutated mtDNA was present in the walls of the leptomeningeal and cortical blood vessels in all brain regions. We conclude that vascular mitochondrial dysfunction is important in the pathogenesis of the stroke-like episodes in MELAS patients. As migraine is a commonly encountered feature in MELAS, we propose that coupling of the vascular mitochondrial dysfunction with cortical spreading depression (CSD) might underlie the selective distribution of ischaemic lesions in the posterior cortex in these patients.
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PMID:Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. 1686 82

It is well recognized that headache, and especially migraine, runs in families. Recent studies into the heritability of primary headache subtypes, migraine, cluster and tension headache, and conditions in which headache is a prominent feature, such as the mitochondrial disease, mitochondrial encephalopathy, lactic acidosis, and strokelike episodes, and the arteriopathy, cerebral autosomal-dominant arteriopathy with subcortical infarctions and leukoencephalopathy, are improving our understanding of the genetic contribution to headache. Studies of the rare familial hemiplegic migraine are leading to advances in understanding the pathophysiological mechanisms of the more common migraine types. Current knowledge of hereditary and genetic features of headache subtypes is reviewed and the implications for understanding the pathophysiology of migraine are discussed.
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PMID:Heredity, genes, and headache. 1704 52

We describe a patient with Hashimoto's encephalopathy presenting as long-standing episodes of aphasia associated with migraine-like headache. Repeated thyroid hormone levels were within normal values, but high titers of antithyroid antibodies in serum, and diffuse EEG slowing and CSF abnormalities during one episode led to the diagnosis.
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PMID:Hashimoto's encephalopathy mimicking migraine with aura. 1735 9

The concept proposed is that transient bacteraemia occurring in otherwise healthy individuals can cause acute life threatening events due to bacterial toxaemia even though the bacteraemia is rapidly cleared (<20 min). This is most likely to occur in infancy at around two to three months of age when anti-toxin IgG reaches its nadir. Sudden unexpected death in infancy, acute life threatening events, haemorrhagic shock and encephalopathy, and the triad of retinal haemorrhage, encephalopathy and bilateral thin film subdural haematomata are conditions which could be caused by this mechanism. Investigations need to be directed to measuring bacterial toxins in blood, CSF and urine; anti-toxin IgG in blood; and bacterial specific nucleic acid sequences in blood, CSF and urine using polymerase chain reaction in order to confirm recent bacteraemia. Furthermore the upper respiratory tract bacterial flora should be mapped in cases and appropriately matched live healthy community controls. Sudden onset, profound life threatening physiological dysfunction occurring in later life could also be caused by a similar mechanism and should be investigated in a similar way; candidate conditions include epilepsy, migraine, stroke and cardiac arrhythmias.
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PMID:Transient bacteraemia: a possible cause of sudden life threatening events. 1746 91

The objective of this study was to analyse the prevalence and characteristics of the main clinical and immunological manifestations at the onset and during the evolution of the disease in a cohort of patients from Latin America (mainly of mestizo origin) and to compare the Latin American with the European patients. Clinical and serological characteristics of 100 APS patients from Mexico and Ecuador were collected in a protocol form that was identical to that used to study the ;Euro-Phospholipid' cohort. The cohort consisted of 93 female patients (93.0%) and seven (7.0%) male patients. There were 91 mestizos (91.0%), seven whites (7.0%) and two Amerindians (2.0%). The most common manifestations were livedo reticularis (40.0%), migraine (35.0%), inferior extremity deep vein thrombosis (32.0%), thrombocytopenia (28.0%) and hemolytic anemia (20.0%). Several clinical manifestations were more prevalent in Latin American than in European patients and they included mainly neurological (migraine, transient global amnesia, acute ischemic encephalopathy, amaurosis fugax) and cutaneous (livedo reticularis, skin ulcerations, superficial cutaneous necrosis, multiple subungual splinter hemorrhages) manifestations as well as hemolytic anemia. The APS has a wide variety of clinical and immunological manifestations at the onset and during the evolution of the disease and the ethnic origin in addition to environmental and socioeconomic factors can modify the disease expression.
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PMID:Antiphospholipid syndrome in Latin American patients: clinical and immunologic characteristics and comparison with European patients. 1757 41


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