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

The etiology of migrainous cerebral infarction is unknown, but may involve prothrombotic coagulation abnormalities. Therefore, we studied resistance to activated protein C and the presence of the Arg506Gln factor V Leiden mutation in 20 patients with migrainous cerebral infarction. Only one heterozygous carrier of the mutation was found, whereas other patients did not carry the mutation. This indicates that the factor V Leiden mutation is not a major risk factor for migrainous cerebral infarction.
Cephalalgia 1997 Aug
PMID:The factor V Leiden mutation (R506Q) is not a major risk factor for migrainous cerebral infarction. 925 78

It has been suggested that during attacks of migraine both platelet activation and plasma coagulability are increased. We investigated the prevalence of several prothrombotic genetic risk factors in patients with migraine: factor V R/Q 506, factor II 20210 G/A, decanucleotide insertion/deletion in the factor VII promoter, and the platelet HPA-1 and HPA-2 alloantigenic systems, by genotypic identification in an age- and sex-matched case-control study including 106 patients with migraine (49 with aura, and 57 without aura). The prevalence of all genotypes was similar among case patients and controls. No association in relation to the type of migraine was detected in the factor II, factor VII, HPA-1, or HPA-2 polymorphisms. Our results showed a high prevalence of factor V Leiden in those patients with migraine with aura (6.1%), though that association was not statistically significant. The studied prothrombotic genetic factors do not seem to be associated with the development of migraine and, therefore, are not likely relevant in the previously reported hypercoagulability and platelet hyperaggregability in this disease.
Cephalalgia 1998 Jun
PMID:Migraine and prothrombotic genetic risk factors. 967 4

The role of hemostatic elements in stroke has been clearly defined but several prothrombotic polymorphisms of hemostatic factors, important for other thromboembolic disorders, seem not to be very significant in stroke. Recently, the high prevalence of factor V Leiden in patients with stroke and a history of migraine has suggested an association between migraine and prothrombotic genetic risk factors. Stroke being a multifactorial disease, the aim of this study was to test whether prothrombotic tendencies increase the risk of stroke in patients with migraine. We determined the prevalence of four prothrombotic genetic risk factors (factor V R/Q 506, factor II 20210 G/A, decanucleotide insertion/deletion in the factor VII promoter, and the platelet HPA-1 alloantigen system) in 17 patients with coexisting ischemic cerebrovascular disease and migraine, 107 patients with ischemic cerebrovascular disease, 106 patients with migraine, and 202 control subjects. Genotyping for all polymorphisms analyzed in our study were performed after specific genomic polymerase chain reaction, and confirmed by single-strain conformation polymorphism analysis. In the group of patients with coexisting ischemic cerebrovascular disease and migraine, the prevalence of prothrombotic genotypes (factor V Leiden, 5.8%; factor II 20210 A, 0%; factor VII A1, 70.6%; and HPA-1b, 35.3%) was similar to that obtained in all other groups. We can conclude that the studied polymorphisms do not seem to be associated with the development of ischemic cerebrovascular disease in those patients with migraine.
Headache
PMID:Prothrombotic genetic risk factors in patients with coexisting migraine and ischemic cerebrovascular disease. 1127 32

Inherited thrombophilia is a risk factor for dural sinus thrombosis (DST). To our knowledge, this is the first description with autopsy findings of a patient with DST associated with heterozygous factor V Leiden and a short activated partial thromboplastin time (aPTT). A 51-year-old woman presented with a 3-day history of headache, nausea, right-sided weakness, and focal motor seizure; she died 3 days after admission. At autopsy, a gross examination showed hemorrhage of bilateral parietal lobes and left primary motor cortex, uncal and tonsillar herniation, and pulmonary embolus of the right upper lobe. A microscopic examination of the brain showed an organizing thrombus in the superior sagittal sinus, diffuse cerebral edema, and extensive venous congestion. Laboratory studies showed heterozygous factor V Leiden by polymerase chain reaction and a very short aPTT of 17 seconds (reference range, 22-30 seconds). The combination of a heterozygous factor V Leiden mutation and a short aPTT may have contributed to the fatal DST in this patient.
 ...
PMID:Fatal dural sinus thrombosis associated with heterozygous factor V Leiden and a short activated partial thromboplastin time. 1452 55

We report clinical findings, risk factors and neurological and cognitive long-term outcome in three Italian children aged 7, 8 and 5, respectively, who experienced cerebral venous sinus thrombosis (CVST). All children presented with headache, associated to nausea, vomiting and papilloedema. None suffered from epileptic seizures. In two of them a paresis of the sixth cranial nerve with diplopia was found. Diagnosis was confirmed by magnetic resonance imaging angiography (angio MRI) in all cases. In all patients plasma levels of protein C, protein S, antithrombin III (AT III), antiphospholipid antibodies (ApA) and homocysteine were detected. Furthermore, factor V Leiden mutation, prothrombin mutation G20210A and MTHFR mutation were searched for. A Protein C reduction was detected in all patients at onset; this finding, however, was not confirmed at follow-up in all of them. At one-year follow-up, neurological examination was normal in all children and neuropsychological assessment, aimed at excluding linguistic and non-linguistic cognitive deficits, revealed normal performances in two of them. In the third child, cognitive assessment confirmed a previously diagnosed developmental dyslexia.
 ...
PMID:Cerebral venous sinus thrombosis in childhood: clinical aspects and neurological and cognitive long-term outcome in three cases. 1562 88

Migraine can induce ischaemic stroke, and is considered an independent risk factor for stroke in the young. To date, the nature of the link between migraine and stroke is essentially unknown. Forty-five children were studied. Homocysteine levels (fasting and post methionine load), vitamin B12 and plasma folate levels, factor V Leiden, factor II G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations were examined. Compared with controls, patients with migraine had higher levels of post-methionine load homocysteine values (19.5 +/- 4.9 vs. 16.9 +/- 1.9; P = 0.025) and significantly lower folate levels (5.8 +/- 2.6 vs. 7.5 +/- 2.1; P = 0.002). We found a trend toward an increased risk of migraine in subjects carrying a homozygous mutant genotype for MTHFR C677T and MTHFR A1298C polymorphisms. Genetic prothrombotic conditions do not seem to be related to migraine in the young, whereas the biochemical differences between migrainous patients and controls are an appealing topic for further investigation.
Cephalalgia 2006 Jun
PMID:Metabolic and genetic risk factors for migraine in children. 1668 13

A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias, myocardial infarction, phlebothrombosis, hypertension, antithrombin III deficiency, factor V Leiden disease, chronic obstructive lung disease, tinnitus, diarrhea, recurrent abdominal pain, headache, and depressive mood. He was treated with intravenous substitution of the deficient enzyme alpha-galactosidase A. Possible future options in treatment of Fabry disease are discussed.
 ...
PMID:Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options. 1761 Jun 10

We report the case of a 27-year-old parturient who developed a headache within 12 hours of delivery and who subsequently seized. Further examination, including magnetic resonance imaging and computed tomographic scan, showed a partial thrombosis of a transversal venous sinus, the underlying cause being an activated protein C resistance caused by a heterozygote factor V Leiden mutation and heterozygote prothrombin-gene mutation G20210A. Seven months after delivery, the patient is in good health, showing no neurocognitive disability.
 ...
PMID:Postpartum seizures after epidural analgesia: a patient with a mutation of the factor V Leiden and prothrombin gene. 1806 13

Postpartum cerebral vein thrombosis is a very rare entity (3-4 cases per million). Clinical manifestations vary, though persistent headache is almost always reported, meaning that differential diagnosis should be performed to rule out other causes of postpartum headache. Recognized risk factors for this disease are the prothrombotic state of pregnancy (third trimester), excess weight, and thrombophilia Accidental dural puncture, protein C and S deficiencies, factor V Leiden mutation, antiphospholipid syndrome, and the use of oral contraceptives have also been implicated. The diagnostic test of choice is magnetic resonance imaging, as it is convenient and harmless, though transcranial Doppler ultrasound can also be used. Pulmonary angiography is the gold-standard test. The treatment of choice is anticoagulant therapy with heparin (a treatment that is controversial, however, due to the high risk of rebleeding), followed by long-term treatment with antivitamin K drugs. We report a case of thrombosis of the upper longitudinal sinus associated with persistent postpartum headache and a history of a failed attempt at epidural puncture for analgesia during labor. The case posed interesting diagnostic questions.
 ...
PMID:[Sagittal sinus thrombosis as a rare cause of postpartum headache: a case report]. 1885 84

Cerebral venous thrombosis (CVT) may present with a variety of symptoms and findings consisting of either only persistent headache, or slowly progressive stroke over several days, or even coma. CVT may develop in relation to hypercoagulable states. However, even after extensive investigation, a predisposing factor could not be identified in some cases. We report a case of CVT associated with heterozygous V Leiden mutation and sarcoidosis. Since most factor V gene heterozygous individuals do not exhibit clinical thrombotic events, the venous thrombosis of our patient suggests convergence of an inherited predisposition (heterozygous factor V Leiden mutation) with an acquired thrombogenic stimulus (sarcoidosis). Early diagnosis and treatment with anticoagulation is pivotal for a favorable outcome.
 ...
PMID:Cerebral venous thrombosis in a patient with sarcoidosis. 1942 Aug 21


1 2 3 Next >>