PubMed Health⌕ Search

Biomedical subjects

Hortensia Alonso-Navarro

Publications and source records attributed to Hortensia Alonso-Navarro.

10 recordsLinked to original sources

CYP2C19 polymorphism and risk for essential tremor.

Many patients with essential tremor (ET) develop acute adverse effects to primidone. We investigated the association between CYP2C19 polymorphism (possibly related to primidone metabolism) and the risk for developing essential ET and acute adverse effects to primidone. Leukocytary DNA from 200 ET patients and 300 healthy controls was studied for the genotype CYP2C19 and the occurrence of CYP2C19 allelic variants by using allele-specific PCR amplification and Sma I and BamH I RFLP analyses. The frequencies of the genotype CYP2C19*1/CYP2C19*2 and of the allelic variant CYP2C19*2 were significantly higher in ET patients than in controls. The mean age at onset of ET did not differ significantly between patients with genotypes CYP2C19*1/CYP2C19*2andCYP2C19*1/CYP2C19*1. The frequencies of the genotype CYP2C19*1/CYP2C19*2 and the allelic variant CYP2C19*2 were similar in ET patients who developed acute adverse effects to primidone, in those who tolerated primidone and in controls; the frequencies were also similar in patients with head, voice, tongue and chin tremor compared with controls. These results suggest that heterozygosis CYP2C19*1/CYP2C19*2 is associated with the risk for ET, but not with the age at onset of ET, the presentation of acute side effects of primidone, or the existence of head, voice, tongue or chin tremor.

Adult↗

Oxidative stress in skin fibroblasts cultures of patients with Huntington's disease.

Oxidative stress and mitochondrial dysfunction should play a role in the neurodegeneration in Huntington's disease (HD). The most consistent finding is decreased activity of the mitochondrial complexes II/III and IV of the respiratory chain in the striatum. We assessed enzymatic activities of respiratory chain enzymes and other enzymes involved in oxidative processes in skin fibroblasts cultures of patients with HD. We studied respiratory chain enzyme activities, activities of total, Cu/Zn- and Mn-superoxide-dismutase, glutathione-peroxidase (GPx) and catalase, and coenzyme Q(10) (CoQ(10)) levels in skin fibroblasts cultures from 13 HD patients and 13 age- and sex-matched healthy controls. When compared with controls, HD patients showed significantly lower specific activities for catalase corrected by protein concentrations (P < 0.01). Oxidized, reduced and total CoQ(10) levels (both corrected by citrate synthase (CS) and protein concentrations), and activities of total, Cu/Zn- and Mn-superoxide-dismutase, and gluthatione-peroxidase, did not differ significantly between HD-patients and control groups. Values for enzyme activities in the HD group did not correlate with age at onset and of the disease and with the CAG triplet repeats. The primary finding of this study was the decreased activity of catalase in HD patients, suggesting a possible contribution of catalase, but not of other enzymes related with oxidative stress, to the pathogenesis of this disease.

Adult↗

[The role of CYP2C19 polymorphism in the development of adverse effects to drugs and the risk for diseases].

There are a great number of polymorphic genes in the human genome. Many of them codify enzymes that metabolizes drugs and xenobiotic agents, including carcinogens. Among the better known of them, there are a number of isozymes of the microsomal oxidative system (CYP3A4, CYP2C9, CYP2C19 y CYP2D6). This article reviews the following issues: a) frequency of presentation of the "poor metabolizer" genotype and/or phenotype for substrates of CYP2C19; b) role of CYP2C19 polymorphism on the metabolism of some drugs (mephenytoine and other antiepileptic drugs, proton pump inhibitors, several antidepressants and anxyolitics, the antimalaria aggent proguanyl, and propranolol, among others, use this metabolic pathway), and c) possible role of CYP2C19 polymorphism in the risk for development of neoplasia and other diseases (systemic lupus erythematosus, psoriasis, hip osteonecrosis, Alzheimer's disease, amyotrophic lateral sclerosis, essential tremor).

Aryl Hydrocarbon Hydroxylases↗

Myalgia and cramps associated with zolmitriptan.

OBJECTIVE: To report a patient with myalgia and cramps possibly induced by the antimigrainous agent zolmitriptan. CASE REPORT: A 27-year-old woman with episodes of common migraine developed cramps and generalized myalgia after the use of intranasal zolmitriptan 5 mg to treat 3 episodes of migraine. This side effect had not occurred with oral zolmitriptan 2.5 mg. CONCLUSION: Myalgia and cramps should be considered a possible dose-dependent adverse effect of zolmitriptan.

Administration, Intranasal↗

Reversible tremor, myoclonus, and fasciculations associated with topiramate use for migraine.

OBJECTIVE: To report a patient with tremor, multifocal myoclonus, and fasciculations, possibly induced by the antiepileptic drug topiramate. CASE REPORT: A 46-year-old woman with frequent episodes of migraine without aura that were not controlled with other prophylactic drug, developed a reversible clinical picture of postural tremor, multifocal myoclonus, weight loss, amyotrophia, and fasciculations after exposure to topiramate. These symptoms disappeared after topiramate withdrawal. CONCLUSIONS: Tremor, myoclonus, and fasciculations should be considered as a possible adverse effect of topiramate.

Fasciculation↗

Amisulpride-induced tardive motor and phonic tics.

OBJECTIVE: To report a patient with tardive tics possibly induced by the atypical neuroleptic drug amisulpride. CASE REPORT: A 55-year-old woman developed motor and phonic tics after a prolonged treatment with amisulpride. Tics improved and finally disappeared after amisulpride withdrawal. CONCLUSIONS: Tardive motor and phonic tics should be considered as a possible adverse effect of amisulpride.

Amisulpride↗

Tardive blepharospasm associated with cinnarizine use.

OBJECTIVE: To report a patient with chronic blepharospasm possibly induced by the calcium-channel blocker cinnarizine. CASE REPORT: A 53-year-old woman developed chronic blepharospasm during a prolonged therapy with calcium-channel blocker cinnarizine for the treatment of vertigo. CONCLUSIONS: "Tardive blepharospasm" should be considered as a possible adverse effect of cinnarizine.

Blepharospasm↗