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)

Bulfield and others found X-linked muscular dystrophic (mdx) mouse by screening C57 BL/10 mice. The serum CK and PK are high in mdx mice, and they develop muscle degeneration 10-15 days after birth. The regeneration is vigorous in mdx mice and almost all the muscle fibers are replaced by regenerated fibers by 60 days after birth. Although mdx mice have been developed as a model for X-linked muscular dystrophy we have found that myotonic bursts are recorded when a glass microelectrode is inserted into the muscle fibers of hemidiaphragm preparations of mdx mice. Insertion myotonia is ceased by addition of the Na channel blocker tetrotoxin. Myotonia is not reduced, nor ceased by lowering the extracellular Ca to 1/15 of the volume of ordinary Tyrode's solution. Calcium antagonist, nicardipine at the dose of 10(-7), and 10(-6)M/L do not reduce myotonic bursts. Higher dose of nicardipine up to 2 x 10(-5)M/L abolished myotonic bursts. These results indicate that myotonic bursts are related to muscle membrane abnormalities, and each action potential occurs through Na channel, but not through Ca channel Higher dose of calcium antagonist can abolish myotonia by affecting Na channel in addition to their primary effects of Ca channel. The clinical effects of the Ca antagonist for myotonia was reported in one study. Since previous medications for myotonia including quinine HCl, procaine amide, diphenylhydantoin, and carbamazepine have some side effects such as tinnitus, headache, nausea, cardiac blocks, and bone marrow suppression, Ca antagonist may be used as a safe therapeutic drug for myotonia.
 ...
PMID:[Intracellular recording of myotonia in mdx mouse and the effect of Ca antagonist in myotonia]. 279 3

We collected two clinically matched samples of patients, one sample affected by migraine with aura the other by migraine without aura, to investigate the genetic determination of these conditions. A maternal and X-linked transmission for both these diseases was considered unlikely after pedigree analysis. Classical segregation analysis indicated a likely autosomal recessive kind of transmission for both. Reduced penetrance and the h2 values, however, imply the presence of additional genetic and/or environmental factors controlling the phenotypic expression of migraine.
Cephalalgia 1993 Dec
PMID:Testing models for genetic determination in migraine. 831 47

We analyzed 31 families selected for an apparently autosomal-dominant mode of inheritance of migraine with aura (MA) in the nuclear family. The nuclear families were expanded with first- and second-degree relatives. All interviews were made by physicians experienced in headache diagnoses. The criteria of the International Headache Society were used. The population relative risk among children in nuclear families was similar to the estimated population relative risk of MA assuming an autosomal-dominant mode of inheritance. The population relative risk tended to decrease among first-degree relatives outside nuclear families and further among second-degree relatives. Both first- and second-degree relatives outside the nuclear families had a statistically significant lower risk of MA than expected. Thus, autosomal-dominant inheritance with or without reduced penetrance was unlikely. Autosomal-recessive inheritance was unlikely because of the unequal sex distribution. Other modes of inheritance were considered as well. Mitochondrial and X-linked inheritance were excluded because of paternal transmission. The female preponderance was too low to explain sex-influenced inheritance. We conclude that MA most likely has a multifactorial inheritance even in high-risk families with MA.
 ...
PMID:Analysis of 31 families with an apparently autosomal-dominant transmission of migraine with aura in the nuclear family. 925 75

Fabry's disease is a rare, X-linked disorder of the glycosphingolipid metabolism, in which a partial or total deficiency of a lysosomal alpha(alpha)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal alpha galactose moieties (i.e., cerebroside di- and trihexoside) in most body fluids and tissues. Accumulation of neutral glycosphingolipids occurs within the lysosomes of endothelial, perithelial, and smooth muscle cells of the myocardial and renal systems; to a lesser extent in reticuloendothelial and connective cells of the cornea; and in ganglion and perineural cells of the autonomic nervous system. In Korea, 7 cases of Fabry's disease have been reported. A 29-year-old man with fever and headache had typical skin findings and a family history of Fabry's disease, and it was confirmed through renal biopsy and enzyme assay for alpha-galactosidase. We report a case of Fabry's disease with a review of the literatures reported in Korea.
 ...
PMID:Fabry's disease--a case report and review of literatures reported in Korea. 952 88

Migraine is a common complex disorder characterized by severe recurrent headache and usually accompanied by nausea and vomiting. Previous studies in our laboratory have utilized three large multigenerational Australian pedigrees affected with migraine to indicate that the disease is genetically heterogeneous, with linkage results implicating genomic susceptibility regions on both chromosomes 19p and Xq. The present study explores the possibility of a correlation between genetic and clinical heterogeneity in these affected pedigrees. Specifically, the clinical characteristics of migraine including subtype, age of onset, frequency, duration, and disease symptoms were compared between the migraine pedigrees, and gender differences were also assessed. Our exploratory analyses revealed no significant differences in any of the clinical characteristics tested between the chromosome 19-linked family and the two X-linked families. Also, we did not detect any differences in male vs. female clinical features for these pedigrees. In conclusion, migraine is considered to be a clinically and genetically heterogeneous disorder; however, our study provided no conclusive evidence that variation in genomic susceptibility region is related to heterogeneity at the clinical level in these migraine-affected pedigrees.
Cephalalgia 2003 Oct
PMID:An analysis of clinical characteristics in genetically linked migraine-affected pedigrees. 1451 Sep 27

Fabry Disease (FD) is an X-linked lysosomal storage disorder (prevalence about 1 : 100 000) caused by a genetic defect associated with a lack of alpha-galactosidase A (alpha-GAL) enzyme activity. As a consequence, neutral glycosphingolipides can not be cleaved and metabolized, and accumulate in lysosomes of several tissues, particularly in vascular endothelium and smooth muscle cells. The most prominent symptoms comprise pain attacks and acroparesthesia, angiokeratoma, corneal opacity, renal and cardiac dysfunction, hypo- and anhidrosis, gastrointestinal symptoms, and cerebrovascular dysfunction with vertigo, headache, and cerebral ischemia. Characteristic symptoms of FD can occur in male and female patients with the same prevalence, while females with FD seem to be less severely affected. The course of untreated illness is progressive with considerable interindividual variability. Since 2001 two enzyme replacement therapies are approved which can possibly stop the disease progress and alleviate symptoms. The very few reports and clinical observations have shown that a very high proportion of FD patients develop neuropsychiatric symptoms. However, accurate data are lacking. Although the pathophysiologic mechanisms are quite unknown, it is surmised that sphingolipid deposits in the endothelium of small cerebral vessels lead to regional cerebral ischemia accompanied by neuropsychiatric symptoms and deficits. Furthermore, patients with FD are chronically distressed by pain attacks and additional somatic and psychological impairment. Frequently, pain attacks are triggered by psychosocial stress. The high interindividual variability can, thus, also be interpreted on the basis of existing stress and coping models. The present paper will review the presently available psychiatric and neuropsychological findings in FD and will discuss difficulties associated with classification and differential diagnosis of psychiatric disorders occurring in patients with FD.
 ...
PMID:[Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review]. 1628 13

Ehlers-Danlos syndrome is a rare inherited illness, which includes an autosomal dominant and also a recessive X-linked variant. Its main clinical characteristic is a generalised connective tissue involving collagen and elastin, causing fragile and hyperextensible skin, loose jointedness and bruising. Many clinical subtypes are described, each of a different severity degree pattern. The correlation of this syndrome and headache disorders is rare. In this paper we describe the case of a young woman with Type II (less severe) Ehlers-Danlos Syndrome and headache.
J Headache Pain 2005 Dec
PMID:Ehlers-Danlos syndrome: correlation with headache disorders in a young woman. 1638 46

Mutation in the orphan nuclear receptor DAX-1 gene causes X-linked adrenal hypoplasia congenita (AHC). Affected male children classically suffer a salt-losing crisis and adrenal insufficiency in their early infancy or, in some rare exceptions, with late-onset subtype. We report here a patient manifesting late-onset adrenal hypoplasia congenita caused by the premature truncation of the C-terminus of the DAX-1 molecule, which is essential for its function as a transcriptional repressor. A 12-year-old boy was referred to us after being afflicted with generalized skin pigmentation for about 3 years, fatigue and headache. Primary adrenal insufficiency was determined on the basis of a low plasma cortisol level (3.9 microg/dl) despite an extremely high ACTH level (1200 pg/ml). Replacement therapy with hydrocortisone and fludorocortisone acetate was initiated soon thereafter. Hypogonadotropic hypogonadism was confirmed at the age of 18 years, at which time sexual infantilism had become apparent. Direct sequencing of the peripheral lymphocyte-derived DNA revealed a novel 1033del13 mutation on the ligand-binding domain of the NR0B1 (DAX-1) gene, which generated a premature stop codon truncating the C-terminus. This mutation was considered de novo since we could not find it in his mother. This case demonstrates that even a truncated protein lacking the major functional domain of DAX-1 can present late-onset and latent adrenal failure.
 ...
PMID:Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene. 1860 30

Familial trigeminal neuralgia has been reported in 1-2% of cases consistent with an autosomal dominant inheritance. We present a Swiss family with several members suffering from occipital and nervus intermedius neuralgia alone or in combination. We suggest that peripheral sensory anastomoses or central convergence of afferent pathways could explain neuralgia affecting two cranial nerves. The pedigree has two main characteristics: (1) affected individuals in two generations and (2) in the first generation the father is affected, in the second generation all women are affected, and none of the men. This is suggestive of an X-linked dominant or an autosomal dominant mode of inheritance.
J Headache Pain 2010 Aug
PMID:Familial occipital and nervus intermedius neuralgia in a Swiss family. 2189 99

Fragile X syndrome (FXS) is an X-linked condition associated with intellectual disability and behavioral problems. It is caused by expansion of a CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. This mutation is associated with hypermethylation at the FMR1 promoter and resultant transcriptional silencing. FMR1 silencing has many consequences, including up-regulation of metabotropic glutamate receptor 5 (mGluR5)-mediated signaling. mGluR5 receptor antagonists have shown promise in preclinical FXS models and in one small open-label study of FXS. We examined whether a receptor subtype-selective inhibitor of mGluR5, AFQ056, improves the behavioral symptoms of FXS in a randomized, double-blind, two-treatment, two-period, crossover study of 30 male FXS patients aged 18 to 35 years. We detected no significant effects of treatment on the primary outcome measure, the Aberrant Behavior Checklist-Community Edition (ABC-C) score, at day 19 or 20 of treatment. In an exploratory analysis, however, seven patients with full FMR1 promoter methylation and no detectable FMR1 messenger RNA improved, as measured with the ABC-C, significantly more after AFQ056 treatment than with placebo (P < 0.001). We detected no response in 18 patients with partial promoter methylation. Twenty-four patients experienced an adverse event, which was mostly mild to moderately severe fatigue or headache. If confirmed in larger and longer-term studies, these results suggest that blockade of the mGluR5 receptor in patients with full methylation at the FMR1 promoter may show improvement in the behavioral attributes of FXS.
 ...
PMID:Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. 2138 70


1 2 3 Next >>