Publications by authors named "Felix Javier Jimenez-Jimenez"

Introduction: The main treatment options for essential tremor (ET), which is probably one of the most common movement disorders, have been propranolol and primidone, for many years. This review aims to synthesize therapeutic attempts with other drugs.

Areas Covered: We have reviewed the current state of the pharmacological treatment of ET, both in patients and in experimental models of this disease, with special emphasis on the data published in the last 5 years.

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Article Synopsis
  • A comprehensive understanding of the healthcare system and neurology departments is essential for effectively implementing anti-amyloid antibody treatments in hospitals, especially regarding the organization and patient care.* -
  • A survey of department heads from 16 Spanish hospitals showed consensus on the need for structural changes, such as focusing Alzheimer’s patients in specialized dementia units and expanding neurology services by hiring more staff and enhancing diagnostic procedures.* -
  • The findings underscore the necessity for significant transformations in Spanish neurology departments to ensure the successful integration of anti-amyloid antibodies and promote fair access to new therapies for patients.*
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Several studies have proposed a potential role for oxidative stress in the development of multiple sclerosis (MS). For this reason, it seems tentative to think that treatment with antioxidant substances could be useful in the treatment of this disease. In this narrative review, we provide a summary of the current findings on antioxidant treatments, both in experimental models of MS, especially in experimental autoimmune encephalomyelitis (EAE) and in the cuprizone-induced demyelination model, and clinical trials in patients diagnosed with MS.

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The pathogenesis of multiple sclerosis (MS) is not completely understood, but genetic factors, autoimmunity, inflammation, demyelination, and neurodegeneration seem to play a significant role. Data from analyses of central nervous system autopsy material from patients diagnosed with multiple sclerosis, as well as from studies in the main experimental model of multiple sclerosis, experimental autoimmune encephalomyelitis (EAE), suggest the possibility of a role of oxidative stress as well. In this narrative review, we summarize the main data from studies reported on oxidative stress markers in patients diagnosed with MS and in experimental models of MS (mainly EAE), and case-control association studies on the possible association of candidate genes related to oxidative stress with risk for MS.

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The pathogenesis of migraine is not completely understood, but inflammation and oxidative stress seem to be involved, according to data from an experimental model of the disease. This narrative review summarizes data from studies on oxidative stress markers in migraine patients, case-control association studies on the possible association of candidate genes related to oxidative stress with the risk for migraine, studies showing the presence of oxidative stress in experimental models of migraine, and studies on the efficacy of antioxidant drugs in migraine therapy. Many studies have addressed the value of concentrations of prooxidant and antioxidant substances or the activity of antioxidant enzymes in different tissues (mainly in serum/plasma or in blood cells) as possible biomarkers for migraine, being thiobarbituric acid (TBA) reactive substances (TBARS) such as malonyl dialdehyde acid (MDA) and 4-hydroxynonenal, and nitric oxide (this at least during migraine attacks in patients with migraine with aura (MWA) the most reliable.

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The possible usefulness of alpha-synuclein (aSyn) determinations in peripheral tissues (blood cells, salivary gland biopsies, olfactory mucosa, digestive tract, skin) and in biological fluids, except for cerebrospinal fluid (serum, plasma, saliva, feces, urine), as a marker of several diseases, has been the subject of numerous publications. This narrative review summarizes data from studies trying to determine the role of total, oligomeric, and phosphorylated aSyn determinations as a marker of various diseases, especially PD and other alpha-synucleinopathies. In summary, the results of studies addressing the determinations of aSyn in its different forms in peripheral tissues (especially in platelets, skin, and digestive tract, but also salivary glands and olfactory mucosa), in combination with other potential biomarkers, could be a useful tool to discriminate PD from controls and from other causes of parkinsonisms, including synucleinopathies.

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Introduction: Parkinson's disease is a chronic neurodegenerative multisystemic disorder that affects approximately 2% of the population over 65 years old. This disorder is characterized by motor symptoms which are frequently accompanied by non-motor symptoms such as cognitive disorders. Current drug therapies aim to reduce the symptoms and increase the patient's life expectancy.

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Background/objectives: Several studies have shown a relationship between vitamin D and migraine, including the association between decreased serum 25-hydroxyvitamin D in patients with migraine and the positive effects of vitamin D supplementations in the therapy of this disease. Two single-nucleotide variants (SNVs) vitamin D receptor (VDR) gene, VDR rs2228570, and VDR rs731236 have shown an association with migraine risk in a previous case-control association study, while an exome sequencing study identified a rare variant in GC vitamin D binding protein gene. This study aims to look for the association between several common variants in these two genes and the risk for migraine.

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Purpose Of Review: Patients with different types of choreic syndromes, specially those with Huntington's (HD) and Wilson's (WD) diseases, report frequent sleep complaints. This review focuses on the main findings of studies addressing the sleep features in these diseases, and other less frequent causes of chorea associated with sleep disorders, including a new syndrome described in the last decade associated with IgLON5 antibodies.

Recent Findings: Patients with HD and WD showed a bad quality of sleep and high frequency of insomnia and excessive daytime somnolence.

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It is well known that coenzyme Q (CoQ) has important antioxidant properties. Because one of the main mechanisms involved in the pathogenesis of Alzheimer's disease (AD) and other neurodegenerative diseases is oxidative stress, analysis of the concentrations of CoQ in different tissues of AD patients and with other dementia syndromes and the possible therapeutic role of CoQ in AD have been addressed in several studies. We performed a systematic review and a meta-analysis of these studies measuring tissue CoQ levels in patients with dementia and controls which showed that, compared with controls, AD patients had similar serum/plasma CoQ levels.

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Several papers have been published suggesting a probable role of inflammatory factors in the etiopathogenesis of migraine. In this study, we investigated the possible association between common variants in the genes (both genes, which are closely related, encode proteins involved in inflammatory and autoimmune responses) in the risk of migraine in a cohort of Caucasian Spanish participants. For this purpose, the frequencies of rs1922452, rs951818, and rs870849 genotypes and allelic variants, using a specific -based qPCR assay, were assessed in 290 patients diagnosed with migraine and in 300 healthy controls.

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The possible role of inflammatory factors in the pathogenesis of restless legs syndrome (RLS) is not well understood. Because several inflammatory diseases have shown an association with the risk for RLS, the measurement of serum/plasma levels of inflammatory factors has been a matter of a scarce number of studies. We performed a systematic review and a meta-analysis to assess the possible association of serum/plasma levels of inflammatory markers with the risk for RLS.

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Several recent works have raised the possibility of the contribution of the lymphocyte activation gene 3 (LAG3) protein in the inflammatory processes of multiple sclerosis (MS). Results of studies on the possible association between gene variants and the risk of MS have been inconclusive. In this study, we tried to show the possible association between the most common single nucleotide variants (SNVs) in the and genes (these two genes are closely related) and the risk of MS in the Caucasian Spanish population.

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According to several studies, inflammatory factors could be related to the pathogenesis of idiopathic restless legs syndrome (RLS). In addition, RLS and Parkinson's disease (PD) have shown a possible relationship, and recent studies have shown an association between rs1922452 and rs951818 single nucleotide variants (SNVs) and the risk for PD. For these reasons, we investigated the possible association between common variants in the genes (which encoded proteins involved in inflammatory and autoimmune responses) and the risk for RLS in a Caucasian Spanish population.

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Background/objectives: Several recent studies suggest a possible role of lymphocyte activation 3 (LAG3) protein. LAG3 can behave as an α-synuclein ligand, and serum and cerebrospinal fluid-soluble LAG3 levels have been proposed as a marker of Parkinson's disease (PD). In this study, we aimed to investigate whether there is an association between 3 common single-nucleotide variations (SNVs) in the LAG3 gene and its closely related CD4 molecule gene and the risk of PD in a Caucasian Spanish population.

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Sleep disorders seem to be a frequent complaint of patients diagnosed with Tourette syndrome (TS) or chronic or persistent tic disorders (CTD or PTD). In this review, we expanded a previously used search using 4 well-known databases up to February 15, 2022, looking for the coexistence of global and/or specific sleep disorders and polysomnographic studies performed on patients with TS/CTD/PTD. The references of interest in the topic were selected by hand.

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Coenzyme Q (CoQ) has an important role as an antioxidant. Being that oxidative stress is one of the mechanisms involved in the pathogenesis of Parkinson's disease (PD) and other neurodegenerative diseases, several studies addressed the concentrations of CoQ in the different tissues of patients with PD and other parkinsonian syndromes (PS), trying to elucidate their value as a marker of these diseases. Other studies addressed the potential therapeutic role of CoQ in PD and PS.

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Several studies have shown an association between some variants in the vitamin D receptor (VDR) and the GC vitamin D binding protein (GC) genes with the risk for Parkinson's disease or other neurological disorders. VDR rs2228570 has shown an association with essential tremor (ET) in a previous study. The aim of this study is to look for the association between several common variants in these genes and the risk for ET.

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Increased brain and serum zinc levels in patients with idiopathic restless legs syndrome (idiopathic RLS or iRLS) were described when compared with controls, suggesting a possible role of zinc in the pathogenesis of this disease. However, serum magnesium, calcium, manganese, iron, and copper levels of RLS patients were similar to controls, suggesting a specific impairment of zinc-dependent metabolism in RLS. The aim of this study is to assess the serum concentrations of trace elements involved in oxidative stress or causing peripheral nerve toxicity in a large series of patients with iRLS and controls.

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Background/objectives: Histamine has shown a possible role in the etiopathogenesis of migraine. It has been reported an association between some polymorphisms in the diamine oxidase (DAO) gene and migraine, especially in women. Two studies addressing DAO activity in migraine patients showed conflicting results.

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Importance: Essential tremor (ET) is one of the most common movement disorders, affecting 5% of the general population older than 65 years. Common variants are thought to contribute toward susceptibility to ET, but no variants have been robustly identified.

Objective: To identify common genetic factors associated with risk of ET.

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The symptomatic treatment of REM sleep behaviour disorder (RBD) is very important to prevent sleep-related falls and/or injuries. Though clonazepam and melatonin are usually considered the first-line symptomatic therapy for RBD, their efficiency has not been proven by randomized clinical trials. The role of dopamine agonists in improving RBD symptoms is controversial, and rivastigmine, memantine, 5-hydroxytryptophan, and the herbal medicine yokukansan have shown some degree of efficacy in short- and medium-term randomized clinical trials involving a low number of patients.

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Dopaminergic deficiency, shown by many studies using functional neuroimaging with Single Photon Emission Computerized Tomography (SPECT) and Positron Emission Tomography (PET), is the most consistent neurochemical feature of rapid eye movement (REM) sleep behaviour disorder (RBD) and, together with transcranial ultrasonography, and determination of alpha-synuclein in certain tissues, should be considered as a reliable marker for the phenoconversion of idiopathic RBD (iRBD) to a synucleopathy (Parkinson's disease -PD- or Lewy body dementia -LBD). The possible role in the pathogenesis of RBD of other neurotransmitters such as noradrenaline, acetylcholine, and excitatory and inhibitory neurotransmitters; hormones such as melatonin, and proinflammatory factors have also been suggested by recent reports. In general, brain perfusion and brain glucose metabolism studies have shown patterns resembling partially those of PD and LBD.

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