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1.
Acta Neurol Scand ; 131(4): 211-8, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25263328

RESUMO

BACKGROUND: Restless legs syndrome (RLS) is a common neurological disorder that can coexist with Parkinson's disease (PD). However, the association between these two movement disorders is quite poorly explored and previous findings are controversial in different aspects. OBJECTIVE: To compare prevalence of RLS in Iranian PD population with a matched control group and to investigate the impact of comorbid RLS on quality of life (QoL), nutritional status, and clinical characteristics in PD population. METHODS: This study was conducted on 108 individuals with idiopathic PD (IPD) and 424 matched controls. RLS was diagnosed using the International Restless Legs Syndrome Study Group (IRLSSG) criteria. Further assessments were performed on clinical characteristics, PD severity scales, psychiatric features, nutritional status, fatigue, and QoL in PD patients with and without RLS. RESULTS: Restless legs syndrome was significantly more common among the patients with IPD (14.8%) compared to the controls (7.5%) [OR = 2.1 (95% CI: 1.1-4.0)]. IPD subjects with RLS had significantly higher anxiety score [10.1 (SD = 5.1) vs 5.9 (SD = 5.0); P = 0.003], worse nutritional status [23.7 (SD = 2.7) vs 25.4 (SD = 3.7); P = 0.008], and poorer QoL [26.9 (SD = 13.1) vs 17.0 (SD = 13.2); P = 0.006]. The number of positive answers to the IRLSSG diagnostic criteria had significant direct correlation with unpredictability of the off periods and the presence of symptomatic orthostasis. CONCLUSIONS: Our study demonstrated a higher prevalence of RLS in patients with PD compared to general population. PD patients with RLS suffer from more anxiety, worse nutritional status, and worse QoL. RLS negatively accompanies with psychiatric problems, emotional behaviors, stigma, and cognitive impairment.


Assuntos
Estado Nutricional , Doença de Parkinson/complicações , Qualidade de Vida , Síndrome das Pernas Inquietas/complicações , Síndrome das Pernas Inquietas/epidemiologia , Idoso , Comorbidade , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência
2.
Int J Immunogenet ; 41(6): 508-11, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25319953

RESUMO

The rs3129882, a noncoding variant in HLA-DR, was found to be associated with Parkinson's disease (PD) using several genome-wide association studies. The aim of this replication study was to explore the relationship between this variant and PD in Iranian population. Genomic DNA was extracted from peripheral blood samples, and the rs3129882 SNP was genotyped using a PCR-RFLP method in 520 PD patients and 520 healthy Iranian controls. Significant differences were found in allele frequencies between patients and controls (χ(2) = 4.64, P = 0.031). Under additive and dominant models, the association of the SNP with PD risk is significant, where the A allele was observed to be protective. The results suggest that rs3129882 polymorphism may be a risk factor for PD in Iranian. This is the first study reporting such an association in this population. More replication studies are needed to confirm this data.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Cadeias alfa de HLA-DR/genética , Doença de Parkinson/genética , Alelos , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Humanos , Padrões de Herança/genética , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Modelos Genéticos , Polimorfismo de Nucleotídeo Único/genética
3.
J Neurol Neurosurg Psychiatry ; 68(5): 609-14, 2000 May.
Artigo em Inglês | MEDLINE | ID: mdl-10766892

RESUMO

OBJECTIVE: To characterise the phenotype of a family with paroxysmal exercise induced dystonia (PED) and migraine and establish whether it is linked to the paroxysmal non-kinesigenic dyskinesia (PNKD) locus on chromosome 2q33-35, the familial hemiplegic migraine (FHM) locus on chromosome 19p, or the familial infantile convulsions and paroxysmal choreoathetosis (ICCA syndrome) locus on chromosome 16. METHODS: A family, comprising 30 members, was investigated. Fourteen family members in two generations including three spouses were examined. Haplotypes were reconstructed for all the available family members by typing several microsatellite markers spanning the PNKD, FHM, and ICCA loci. Additionally, the four exons containing the known FHM mutations were sequenced. RESULTS: Of 14 members examined four were definitely affected and one member was affected by history. The transmission pattern in this family was autosomal dominant with reduced penetrance. Mean age of onset in affected members was 12 (range 9-15 years). Male to female ratio was 3:1. Attacks of PED in affected members were predominantly dystonic and lasted between 15 and 30 minutes. They were consistently precipitated by walking but could also occur after other exercise. Generalisation did not occur. Three of the affected members in the family also had migraine without aura. Linkage of the disease to the PNKD, FHM, or ICCA loci was excluded as no common haplotype was shared by all the affected members for each locus. In addition, direct DNA sequential analysis of the FHM gene (CACNL1A4) ruled out all known FHM point mutations. CONCLUSIONS: This family presented with the classic phenotype of PED and is not linked to the PNKD, FHM, or ICCA loci. A new gene, possibly coding for an ion channel, is likely to be the underlying cause of the disease.


Assuntos
Distonia/etiologia , Distonia/genética , Exercício Físico , Transtornos de Enxaqueca/etiologia , Transtornos de Enxaqueca/genética , Adolescente , Adulto , Criança , Cromossomos Humanos Par 16/genética , Cromossomos Humanos Par 19/genética , Cromossomos Humanos Par 2/genética , Análise Mutacional de DNA , Feminino , Ligação Genética , Humanos , Masculino , Transtornos dos Movimentos/genética , Linhagem , Fenótipo , Convulsões/etiologia , Convulsões/genética , Fatores Sexuais
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