Assuntos
Doença de Parkinson , Aminas , Aminoácidos , Biomarcadores , Humanos , Doença de Parkinson/diagnósticoRESUMO
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.
Assuntos
Doença de Parkinson , Aminoácidos , Biomarcadores , Humanos , Doença de Parkinson/diagnósticoRESUMO
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.
Assuntos
Tremor Essencial/etnologia , Tremor Essencial/genética , Exoma/genética , Taxa de Mutação , Mutação , Proteína FUS de Ligação a RNA/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Sequência de Bases/genética , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Expressão Gênica , Humanos , Leucócitos , Masculino , Pessoa de Meia-Idade , Splicing de RNA/genética , RNA Mensageiro/genética , Deleção de Sequência/genética , Espanha/etnologia , População Branca/genética , Adulto JovemRESUMO
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.
Assuntos
Tremor Essencial/etiologia , Tremor Essencial/genética , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Bases de Dados Bibliográficas/estatística & dados numéricos , Tremor Essencial/epidemiologia , Humanos , Proteínas de Membrana/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Estudos em Gêmeos como AssuntoAssuntos
Doença Hepática Induzida por Substâncias e Drogas/diagnóstico , Agonistas de Dopamina/efeitos adversos , Indóis/efeitos adversos , Icterícia Obstrutiva/induzido quimicamente , Síndrome das Pernas Inquietas/tratamento farmacológico , Idoso , Agonistas de Dopamina/administração & dosagem , Feminino , Humanos , Indóis/administração & dosagem , Icterícia Obstrutiva/diagnóstico , Icterícia Obstrutiva/etiologia , Síndrome das Pernas Inquietas/complicaçõesRESUMO
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.
Assuntos
Tremor Essencial/genética , Predisposição Genética para Doença/genética , Proteínas de Membrana/genética , Proteínas do Tecido Nervoso/genética , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Tremor Essencial/epidemiologia , Frequência do Gene/genética , Testes Genéticos , Genótipo , Humanos , Pessoa de Meia-Idade , Fatores de Risco , Adulto JovemRESUMO
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.
Assuntos
Marcadores Genéticos/genética , Predisposição Genética para Doença/genética , Transtornos de Enxaqueca/genética , Polimorfismo Genético/genética , Receptores de Dopamina D3/genética , Adulto , Substituição de Aminoácidos/genética , Depressores do Sistema Nervoso Central/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/induzido quimicamente , Transtornos de Enxaqueca/epidemiologia , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Espanha/epidemiologia , Espanha/etnologia , População Branca/genéticaRESUMO
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.
Assuntos
Arildialquilfosfatase/genética , Tremor Essencial/genética , Predisposição Genética para Doença , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único , Fatores de RiscoRESUMO
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.
Assuntos
Tremor Essencial/diagnóstico , Tremor Essencial/fisiopatologia , Dedos/fisiologia , Destreza Motora/fisiologia , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/fisiopatologia , Idoso , Sistema Nervoso Central/fisiopatologia , Avaliação da Deficiência , Vias Eferentes/fisiopatologia , Tremor Essencial/complicações , Feminino , Dedos/inervação , Humanos , Hipocinesia/diagnóstico , Hipocinesia/etiologia , Hipocinesia/fisiopatologia , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/etiologia , Músculo Esquelético/inervação , Músculo Esquelético/fisiopatologia , Exame Neurológico , Desempenho Psicomotor/fisiologia , Tempo de Reação/fisiologia , Análise e Desempenho de Tarefas , Fatores de Tempo , Percepção Visual/fisiologiaRESUMO
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.
Assuntos
Histamina N-Metiltransferase/genética , Esclerose Múltipla Crônica Progressiva/genética , Esclerose Múltipla Recidivante-Remitente/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idade de Início , Alelos , Estudos de Casos e Controles , Progressão da Doença , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Risco , Fatores Sexuais , Espanha , População Branca/genéticaRESUMO
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.
Assuntos
Tremor Essencial/etiologia , Tremor Essencial/genética , Predisposição Genética para Doença , Glutationa S-Transferase pi/genética , Polimorfismo Genético/genética , Risco , Adulto , Idoso , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Praguicidas/toxicidadeRESUMO
No disponible
Assuntos
Humanos , Feminino , Adulto , Cãibra Muscular/induzido quimicamente , Sumatriptana/efeitos adversos , Transtornos de Enxaqueca/induzido quimicamente , Sumatriptana/administração & dosagem , Agonistas do Receptor de Serotonina/efeitos adversos , Tolerância a MedicamentosRESUMO
No disponible
