Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recent advances in genetic analysis of migraine headache are reviewed. Point mutations of P/Q -type Ca2+ channel alpha1 subunit(CACNA1A) gene and Na-K ATPase, alpha2 (ATP1A2) gene have been identified in the familial hemiplegic migraine (FHM-1 and FHM-2, respectively). Mutations in notch-3 gene cause the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is an autosomal dominant inherited disorder often accompanying with migraine like headache. Serotonin (5-HT) related genes, dopamine D2 receptors (DRD2) gene, methylenetetrahydrofolate reductase (MTHFR) gene, and angiotensin converting enzyme (ACE) gene have been noticed as the susceptible genes for migraine pathogenesis. Genetic study of migraine is promising and will provide further understanding of the migraine pathophysiology. Discovery of the responsible or susceptible genes will open an avenue to develop new therapeutic strategy.
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PMID:[Genetic analysis of migraine headache: a review]. 1621 82

Reversible posterior leukoencephalopathy syndrome is characterized clinically by headache, abnormalities of mental status and visual perception, and seizures. Despite its diverse causes, common precipitating factors are defined as abrupt elevations of blood pressure, renal decompensation, fluid retention, and immunosuppressive therapy. We report three children with reversible posterior leukoencephalopathy syndrome presenting with generalized seizures and headache. The causes of reversible posterior leukoencephalopathy syndrome were considered to be acute hypertension and immunosuppressive therapy in case 1 with systemic lupus erythematosus, chemotherapy (vincristine and/or actinomycin-D) and hyponatremia in case 2, and acute hypertension in case 3, admitted with a familial Mediterranean fever attack. In light of these cases, we review the literature for the etiology, clinical and laboratory findings, and pathogenetic mechanisms of the disease.
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PMID:Reversible posterior leukoencephalopathy syndrome: report of three cases. 1641 49

Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Exons 3 and 4 are mutation hotspots. Migraine is a clinical hallmark of CADASIL. The objective of this study was to investigate whether genetic variants in exons 3 and 4 of the NOTCH3 gene are associated with migraine. Exons 3 and 4 of the NOTCH3 were analysed for mutations and polymorphisms by direct DNA sequencing in 97 migraineurs and the same number of control individuals. No mutations in exons 3 and 4 of the NOTCH3 gene were found in 97 patients with migraine. However, association analysis revealed significant association of the single nucleotide polymorphism (SNP) rs1043994 with migraine.
Cephalalgia 2006 Feb
PMID:Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study. 1642 70

Reversible posterior leukoencephalopathy syndrome is a recently described disorder with typical radiologic findings in the posterior regions of the cerebral hemisphere and cerebellum. The symptoms include headache, nausea, vomiting, visual disturbances, focal neurologic deficits, and seizures. A 10-year-old male was hit on his back, resulting in backache. He was medicated with sodium diclofenate and mefenamic acid. The next day, he had edema and oliguria. By the third day, his blood pressure increased and he began to experience restlessness and worsening mental status. He then complained of headache and visual disturbances and had a seizure. A magnetic resonance imaging scan revealed abnormalities in the posterior regions of the cerebral hemisphere and cerebellum. The patient was treated with antiepileptics and calcium antagonists. His hypertension and seizures were well controlled. On the 22nd day, he was discharged without any neurologic or renal deficits. Reversible posterior leukoencephalopathy syndrome does not occur frequently in childhood, and this is the first case report of reversible posterior leukoencephalopathy syndrome related to nonsteroidal anti-inflammatory drugs. One should consider reversible posterior leukoencephalopathy syndrome as a side effect of nonsteroidal anti-inflammatory drug use in daily medical treatment.
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PMID:Pediatric posterior reversible leukoencephalopathy syndrome and NSAID-induced acute tubular interstitial nephritis. 1650 99

Thunderclap headache is known to be a presenting feature of subarachnoid hemorrhage, unruptured intracranial aneurysm, cerebral venous thrombosis, cervical artery dissection, spontaneous intracranial hypotension, pituitary apoplexy, retroclival hematoma, and hypertensive reversible posterior leukoencephalopathy. We describe a case of thunderclap headache in the absence of focal, long-tract, or lateralizing neurological findings, as the primary clinical feature of embolic cerebellar infarcts. This case expands the differential diagnosis of thunderclap headache and reinforces the need for magnetic resonance imaging in the evaluation of such patients, even when neurologic examination, brain computed tomography, and cerebrospinal fluid analysis are normal.
Headache 2006 Mar
PMID:Thunderclap stroke: embolic cerebellar infarcts presenting as thunderclap headache. 1661 76

Primary thunderclap headache (TCH) is sometimes associated with cerebral vasospasm. However, the role of vasospasm in relation to the development of reversible or irreversible posterior leukoencephalopathy among patients with primary TCH has never been fully addressed. This paper includes a report on a 51-year-old woman with primary TCH complicated with posterior leukoencephalopathy and a literature review of 16 further patients with the same illness. Their magnetic resonance or conventional angiographic findings were clearly described. Our review found that all these 17 patients showed evidence of cerebral vasospasm. Eleven (65%) of them developed permanent ischaemic infarctions, almost exclusively located at the watershed zones. We suggest that the presence of vasospasm might be requisite for posterior leukoencephalopathy as well as for permanent infarctions in these patients. Therefore, searching for any clue of vasospasm is mandatory in treatment of patients with primary TCH. Absence of an accompanying vasospasm might predict a good outcome.
Cephalalgia 2006 May
PMID:Is vasospasm requisite for posterior leukoencephalopathy in patients with primary thunderclap headaches? 1667 61

We report two patients with dural arteriovenous fistulas (DAVFs) who presented with pure progressive dementia. Both patients showed only slowly progressive dementia, without headache, papilledema and other neurologic signs associated with diffuse white matter changes in MRI. MR cerebral angiography showed sigmoid sinus DAVFs that were mainly supplied by the occipital artery, together with retrograde filling of the superior sagittal and straight sinus and dilated cortical veins. SPECT studies showed extensive blood flow reduction in the occipital and parieto-occipital areas and right temporal lobe in one patient. Selective embolization for treatment of the DAVF improved cognitive function associated with the abnormal white matter MRI signal. MRI and SPECT showed that severity of dementia correlated with diffuse white matter changes and regional cerebral blood flow. Our cases suggest that gradually impaired cerebral circulation due to venous hypertensive encephalopathy could be involved in slowly progressive dementia with leukoencephalopathy resulting from a DAVF. DAVFs may be particularly important for differential diagnosis in elderly patients with pure progressive dementia. Thus, early diagnosis of DAVFs and treatment by endovascular surgery is important as treatable or reversible dementia.
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PMID:MRI and SPECT studies of dural arteriovenous fistulas presenting as pure progressive dementia with leukoencephalopathy: a cause of treatable dementia. 1683 6

The authors report a case of systemic lupus erythematosus with posterior leukoencephalopathy who presented with headache, tonic-clonic seizure, loss of consciousness and bilateral loss of vision, after taking azathioprine for three weeks. The patient had hypertension with normal eye grounds. The brain CT showed a hypodensity lesion at both bilateral occipital lobes, mainly in the white matter The symptoms and follow-up MRI were improved after the control of hypertension and discontinuation of azathioprine.
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PMID:Reversible posterior leukoencephalopathy caused by azathioprine in systemic lupus erythematosus. 1688 37

A 56-year-old man was admitted to our hospital with leukocytosis, anemia, and thrombocytopenia. Acute monoblastic leukemia was diagnosed. Two subsequent courses of consolidation chemotherapy consisted of conventional doses of cytarabine and intermediate-dose cytarabine. Intermediate-dose cytarabine was infused intravenously every 12 hr for 6 days. On day 15 after the final infusion of cytarabine, the patient suffered headache, and on day 21, he experienced a decrease in sensation on the sole of his left foot. Magnetic resonance imaging (MRI) of the brain revealed widespread areas of white matter edema. Cerebrospinal fluid (CSF) examination revealed an increase in the number of cells to 31 mm(-3); the majority were lymphocytes. No infiltration of leukemia cells was seen. After 2 months, brain MRI findings were normal. The clinicoradiologic features of the case were consistent with reversible posterior leukoencephalopathy syndrome (RPLS). RPLS in the present case was unlikely to have been caused by direct neurotoxicity because (1) the doses of cytarabine (500 mg/m(2); total dose 9.2 g) were much smaller than those in reported cases and were repeatedly infused until RPLS developed; (2) the RPLS developed 21 days after the final infusion of cytarabine, a much longer period than previously reported; (3) the slight leukocytosis in the CSF observed on day 33 might also have been related to the cellular immune responses evoked by the infused cytarabine. These details suggest not only that direct cerebral neurotoxicity of cytarabine but also that some type of allergic response may have been involved in the development of RPLS.
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PMID:Reversible posterior leukoencephalopathy syndrome after repeat intermediate-dose cytarabine chemotherapy in a patient with acute myeloid leukemia. 1694 20

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


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