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OBJECTIVE To report a patient with bruxism possibly induced by the antidepressant venlafaxine. CASE REPORT A 62-year-old man developed severe bruxism that began 2 weeks after starting a therapy with venlafaxine because of depression and anxiety. After venlafaxine withdrawal, bruxism improved gradually and disappeared 2 months later. CONCLUSIONS Bruxism(More)
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,(More)
BACKGROUND Histamine N-methyltransferase (HNMT) is the main metabolizing enzyme of histamine (a mediator of inflammation implicated in the pathogenesis of multiple sclerosis-MS) in the CNS. We have investigated the possible association between a single nucleotide polymorphism of the HNMT (chromosome 2q22.1), that causes the amino acid substitution Thr105Ile(More)
Essential tremor (ET) is a common movement disorder with an estimated prevalence of 5% of the population aged over 65 years. In spite of intensive efforts, the genetic architecture of ET remains unknown. We used a combination of whole-exome sequencing and targeted resequencing in three ET families. In vitro and in vivo experiments in oligodendrocyte(More)
Despite the research, few advances in the etiopathogenesis on essential tremor (ET) have been made to date. The high frequency of positive family history of ET and the observed high concordance rates in monozygotic compared with dizygotic twins support a major role of genetic factors in the development of ET. In addition, a possible role of environmental(More)
BACKGROUND Abnormalities in cerebello-thalamo-cortical pathways have been suggested as a basis for essential tremor (ET). Two voxel-based morphometry (VBM) studies, each using a 1.5-T magnet, evaluated ET patients, leading to contradictory results. Using a 3-T magnet, we assessed whether white or gray matter changes occurred in ET patients vs. controls. (More)
BACKGROUND/OBJECTIVES Alterations of voice and speech are frequently observed in Huntington's disease (HD). The aim of this study was to assess the degree of voice and speech abnormalities in a group of patients with HD and to analyze possible correlations with degree of disease severity. PATIENTS/METHODS An observational study was carried out on(More)
We conducted a case-control study searching for a possible role of environment in the risk of essential tremor (ET). We interviewed 142 ET patients and 284 age- and sex-matched controls about a family history of ET, exposure to environmental products containing lead, mercury, manganese, solvents and beta-carbolines, and exposure to agricultural work, well(More)
BACKGROUND Histamine has been implicated in the pathogenesis of migraine. We investigated the possible association between functional single nucleotide polymorphisms (SNPs) in the diamine oxidase gene (DAO; chromosome 7q36.1, involved in histamine metabolism) and the risk for migraine. METHODS We studied the frequency of the rs2052129, rs10156191,(More)
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(More)