Asunto(s)
Enfermedad de Parkinson , Aminas , Aminoácidos , Biomarcadores , Humanos , Enfermedad de Parkinson/diagnósticoRESUMEN
BACKGROUND AND PURPOSE: The present systematic review and meta-analysis aims to establish the possible value of cerebrospinal fluid (CSF) and serum/plasma levels of amino acids as markers of Parkinson's disease (PD). METHODS: This is a review of four databases (PubMed, Embase, MEDLINE and Web of Science - Core Collection) from 1966 to 14 March 2020, with identification of references of interest for the topic. The meta-analysis of eligible studies was done using R software package meta, following the PRISMA and MOOSE guidelines. RESULTS: Compared with age- and sex-matched controls, PD patients showed decreased CSF levels of glutamate and taurine and increased CSF levels of tyrosine; decreased serum/plasma levels of aspartate, serine, tryptophan and lysine, and increased serum/plasma proline and homocysteine levels. CONCLUSION: Despite the limitations of this study due to the important variability of results between different series, our findings suggest the value of CSF or serum/plasma levels of several amino acids in the discrimination of PD patients from healthy subjects, related to the levels of some amino acids.
Asunto(s)
Enfermedad de Parkinson , Aminoácidos , Biomarcadores , Humanos , Enfermedad de Parkinson/diagnósticoRESUMEN
FUS/TLS (denoting fused in sarcoma/translocated in liposarcoma [MIM 137070]) codifies an RNA binding protein. Mutations in this gene cause amyotrophic lateral sclerosis (ALS; MIM 608030). Essential tremor (ET [MIM 190300]) is the most frequent movement disorder. Despite its strong familiar aggregation, recently a whole exome sequencing study has identified FUS mutations as a cause of familial ET. To determine whether mutations in FUS are also common in other populations, we sequenced FUS gene in 178 unrelated Spanish subjects with ET. We detected only an intronic single-pair nucleotide deletion (c.1293-37delC), which was predicted to affect mRNA splicing. However, leukocyte mRNA analysis showed no changes in FUS expression. In conclusion, coding or splicing FUS mutations are not a frequent cause of ET in the Spanish population.
Asunto(s)
Temblor Esencial/etnología , Temblor Esencial/genética , Exoma/genética , Tasa de Mutación , Mutación , Proteína FUS de Unión a ARN/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Secuencia de Bases/genética , Niño , Preescolar , Estudios de Cohortes , Femenino , Expresión Génica , Humanos , Leucocitos , Masculino , Persona de Mediana Edad , Empalme del ARN/genética , ARN Mensajero/genética , Eliminación de Secuencia/genética , España/etnología , Población Blanca/genética , Adulto JovenRESUMEN
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 factors has been suggested in the etiology of ET (at least in non-familial forms). Although several gene variants in the LINGO1 gene may increase the risk of ET, to date no causative mutated genes have been identified. In this review, we summarize the studies performed on families with tremor, twin studies, linkage studies, case-control association studies, and exome sequencing in familial ET.
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Temblor Esencial/etiología , Temblor Esencial/genética , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo , Bases de Datos Bibliográficas/estadística & datos numéricos , Temblor Esencial/epidemiología , Humanos , Proteínas de la Membrana/genética , Mutación/genética , Proteínas del Tejido Nervioso/genética , Estudios en Gemelos como AsuntoRESUMEN
BACKGROUND: Essential tremor (ET) is a frequent movement disorder with a substantial family aggregation. A genome-wide association study has recently shown that LINGO1 gene variants are associated with increased risk of ET. METHODS: We intended to replicate these findings by genotyping rs9652490 and rs11856808 in a series of 226 familial ET subjects and 1117 healthy controls from referral movement disorder clinics in Spain. RESULTS: We were unable to replicate the association between LINGO1 variants and familial ET. CONCLUSIONS: Our results indicate that the LINGO1 variants analyzed are not a major risk factor for developing familial ET in our population, which suggests the existence of other unknown genetic risk factors responsible for familial ET in the Spanish population.
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Temblor Esencial/genética , Predisposición Genética a la Enfermedad/genética , Proteínas de la Membrana/genética , Proteínas del Tejido Nervioso/genética , Polimorfismo de Nucleótido Simple/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Temblor Esencial/epidemiología , Frecuencia de los Genes/genética , Pruebas Genéticas , Genotipo , Humanos , Persona de Mediana Edad , Factores de Riesgo , Adulto JovenAsunto(s)
Enfermedad Hepática Inducida por Sustancias y Drogas/diagnóstico , Agonistas de Dopamina/efectos adversos , Indoles/efectos adversos , Ictericia Obstructiva/inducido químicamente , Síndrome de las Piernas Inquietas/tratamiento farmacológico , Anciano , Agonistas de Dopamina/administración & dosificación , Femenino , Humanos , Indoles/administración & dosificación , Ictericia Obstructiva/diagnóstico , Ictericia Obstructiva/etiología , Síndrome de las Piernas Inquietas/complicacionesRESUMEN
BACKGROUND/OBJECTIVES: Dopamine has been implicated in the pathogenesis of migraine. We investigated the possible association between the polymorphism 312G>A (rs6280) in the DRD3 gene(essential tremor 1-ETM1- locus, chromosome 3q13) and the risk for migraine and for triggering migraine attacks by alcohol. METHODS: We studied the frequency of the DRD3 genotypes and allelic variants in 197 patients with migraine and 282 healthy controls using a polymerase chain reaction and MlsI-restriction fragment length polymorphisms method. RESULTS: The frequencies of the DRD3 genotypes and DRD3Gly9 were similar in patients with migraine and controls and were unrelated to the age of onset of migraine, gender, family history of migraine and triggering of migraine attacks by alcohol. The frequency of the genotype DRD3Gly9Gly9 was significantly higher in patients with migraine with aura when compared with patients with migraine without aura, but not with controls. CONCLUSION: DRD3 genotype and allelic variants were not related to the risk for migraine in Caucasian Spanish people.
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Marcadores Genéticos/genética , Predisposición Genética a la Enfermedad/genética , Trastornos Migrañosos/genética , Polimorfismo Genético/genética , Receptores de Dopamina D3/genética , Adulto , Sustitución de Aminoácidos/genética , Depresores del Sistema Nervioso Central/efectos adversos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos Migrañosos/inducido químicamente , Trastornos Migrañosos/epidemiología , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo , España/epidemiología , España/etnología , Población Blanca/genéticaRESUMEN
BACKGROUND: The polymorphic enzyme human serum paraoxonase 1 (PON1), encoded by the gene PON1 (chromosome 7q21.3), plays a major role in the metabolism of organophosphorus compounds. We investigated the possible association between the PON1 genotype and allelic variants of the polymorphisms Leu55Met and Glu192Arg, and the risk for essential tremor (ET). METHODS: We studied the frequency of the PON1 genotypes and allelic variants in 201 patients with ET and 220 healthy controls using a PCR-RLFP method. RESULTS: The frequencies of the PON1 genotypes and allelic variants of the polymorphisms Leu55Met and Gln192Arg did not differ significantly between patients with ET and controls. These polymorphisms were unrelated with the age of onset of ET. CONCLUSIONS: PON1 polymorphisms are not related with the risk for ET.
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Arildialquilfosfatasa/genética , Temblor Esencial/genética , Predisposición Genética a la Enfermedad , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido Simple , Factores de RiesgoRESUMEN
BACKGROUND AND PURPOSE: The question whether patients with essential tremor (ET) have slowed movements as part of their clinical manifestations is still a matter of controversy. We analyzed basic motor function in patients with ET and in healthy matched controls. METHODS: We studied 61 patients with ET and 122 age- and sex-matched controls. Evaluation included four timed tests (pronation-supination, finger tapping and movement between two points, all with both hands, and walking test); and three tests performed on a personal computer (speed for pressing repetitively a key - frequency, visual reaction time and movement time, all with both hands). RESULTS: Essential tremor patients showed higher mean values for right and left finger tapping, left movement between two points; and with right and left frequency and reaction time. In the logistic regression study, ET patients showed significantly higher values than controls for right and left finger tapping; mean, SD, maximum and rank values of right and left frequency; and mean, SD, minimum, maximum and rank values of right and left visual reaction time. Tremor severity was not correlated with the altered values. CONCLUSIONS: Patients with ET showed impaired motor performance, at least in some tasks, such as rapid repetitive finger movements (finger tapping and frequency) and visual reaction time (impairment was not related with tremor severity). This probably means that patients with ET have some degree of bradykinesia.
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Temblor Esencial/diagnóstico , Temblor Esencial/fisiopatología , Dedos/fisiología , Destreza Motora/fisiología , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/fisiopatología , Anciano , Sistema Nervioso Central/fisiopatología , Evaluación de la Discapacidad , Vías Eferentes/fisiopatología , Temblor Esencial/complicaciones , Femenino , Dedos/inervación , Humanos , Hipocinesia/diagnóstico , Hipocinesia/etiología , Hipocinesia/fisiopatología , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/etiología , Músculo Esquelético/inervación , Músculo Esquelético/fisiopatología , Examen Neurológico , Desempeño Psicomotor/fisiología , Tiempo de Reacción/fisiología , Análisis y Desempeño de Tareas , Factores de Tiempo , Percepción Visual/fisiologíaRESUMEN
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 (decreasing enzyme activity) and the risk for MS. METHODS: We studied the frequency of the HNMT genotypes and allelic variants in 228 MS patients and 295 healthy controls using a PCR-RLFP method. RESULTS: The frequencies of the HNMT genotypes and allelic variants did not differ significantly between MS patients and controls, and were unrelated with the age of onset of MS, gender, and course of MS. CONCLUSION: The HNMT polymorphism is not related with the risk for MS.
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Histamina N-Metiltransferasa/genética , Esclerosis Múltiple Crónica Progresiva/genética , Esclerosis Múltiple Recurrente-Remitente/genética , Polimorfismo de Nucleótido Simple , Adulto , Edad de Inicio , Alelos , Estudios de Casos y Controles , Progresión de la Enfermedad , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Mutación Missense , Riesgo , Factores Sexuales , España , Población Blanca/genéticaAsunto(s)
Trastornos de la Voz/fisiopatología , Anciano , Femenino , Humanos , Gemelos MonocigóticosRESUMEN
Glutathione-S-transferases (GST) are polymorphic enzymes that participate in the metabolism of carcinogens (including those of tobacco smoke) and pesticides. We investigated the possible association between the GSTP1 genotype and allelic variants and the risk for essential tremor (ET). We studied the frequency of the GSTP1 genotypes and allelic variants in 200 patients with ET and 220 healthy controls using PCR-RFLP method. The association between GSTP1 polymorphism and the exposure to some environmental factors (agricultural work, pesticides, well-water and smoking-cigarettes habit) was also studied in a subgroup of patients. The frequencies of the GSTP1 genotypes and allelic variants did not differ significantly between patients with ET and controls or between patients with ET exposed to agricultural work, well water and cigarette smoking versus those non-exposed. Mutated allelic variants were significantly more frequent in patients with ET exposed to pesticides versus those non-exposed. GSTP1 polymorphism was unrelated with the age of onset of ET. GSTP1 genotypes and allelic variants were not related with the risk for ET with the possible exception of those patients exposed to pesticides.
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Temblor Esencial/etiología , Temblor Esencial/genética , Predisposición Genética a la Enfermedad , Gutatión-S-Transferasa pi/genética , Polimorfismo Genético/genética , Riesgo , Adulto , Anciano , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Plaguicidas/toxicidadAsunto(s)
Inhibidores de la Colinesterasa , Alucinaciones/inducido químicamente , Enfermedad por Cuerpos de Lewy , Fármacos Neuroprotectores , Fenilcarbamatos , Anciano , Inhibidores de la Colinesterasa/uso terapéutico , Inhibidores de la Colinesterasa/toxicidad , Femenino , Humanos , Enfermedad por Cuerpos de Lewy/complicaciones , Enfermedad por Cuerpos de Lewy/tratamiento farmacológico , Masculino , Fármacos Neuroprotectores/uso terapéutico , Fármacos Neuroprotectores/toxicidad , Fenilcarbamatos/uso terapéutico , Fenilcarbamatos/toxicidad , RivastigminaAsunto(s)
Benzotiazoles/efectos adversos , Trastorno de Pánico/inducido químicamente , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/tratamiento farmacológico , Trastornos de Ansiedad/inducido químicamente , Trastornos de Ansiedad/fisiopatología , Benzotiazoles/administración & dosificación , Carbidopa/uso terapéutico , Sistema Nervioso Central/efectos de los fármacos , Sistema Nervioso Central/metabolismo , Sistema Nervioso Central/fisiopatología , Diazepam/uso terapéutico , Agonistas de Dopamina/administración & dosificación , Agonistas de Dopamina/efectos adversos , Relación Dosis-Respuesta a Droga , Femenino , Agonistas del GABA/uso terapéutico , Humanos , Levodopa/uso terapéutico , Persona de Mediana Edad , Trastorno de Pánico/fisiopatología , Pramipexol , AutoadministraciónRESUMEN
INTRODUCTION: We report a patient who developed an acute confusional state with hallucinations after exposure to cycloplejic eye drops, and review the current literature regarding neurotoxicity due to this type of eye drops. CASE REPORT: A 61 year-old man who developed in two occasions confusion, disorientation and vivid visual hallucinations following exposure to a cyclopejic eye drop containing atropine 2%, scopolamine 0.5% and phenylephrine 4%. We performed a literature search regarding neurological complications of cycloplegic eye drops using the PubMed Database and the services of the Virtual Library 'Agencia Lain Entralgo'. The clinical features of all reports in which the original document was obtained are analyzed and summarized. We have summarized the clinical features of 29 patients with neurotoxicity due to cyclopentolate, 19 to atropine, 18 to scopolamine, 7 to homatropine, and 2 to tropicamide. Our patient should be the fourth reported in Spain, being the offending drug in the four cases the same eye drop. The most commonly reported symptoms are visual hallucinations, behavioral disorders/acute psychosis, alterations of consciousness/confusion, restlessness/hyperactivity, ataxia and speech disorders. Many of the patients reported are children and elder. There have been reported some fatal cases, specially related with atropine. CONCLUSIONS: Neurotoxicity related with anticholinergic effects of cycloplegic agents is not infrequent, although it is not well known in our setting; and can cause death in some cases. Exposure to these drugs should be taken in account in the differential diagnosis of acute confusional syndromes.