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1.
Eur J Clin Invest ; 51(7): e13533, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33666941

RESUMO

BACKGROUND: The relationship between anticardiolipin (aCL) antibodies and cardiovascular events is uncertain and may vary according to arterial location. MATERIALS AND METHODS: FRENA is an ongoing registry of stable outpatients with symptomatic coronary artery disease (CAD), cerebrovascular disease (CVD) or peripheral artery disease (PAD). The rate of subsequent ischaemic events was cross-referenced with the presence of aCL antibodies (any isotype, IgG or IgM). RESULTS: As of June 2017, 1387 stable outpatients were recruited. Of these, 120 (8.7%) showed positive levels of aCL antibodies. Over an average follow-up of 18 months, 250 patients developed subsequent events: 101 myocardial infarction, 57 ischaemic stroke and 92 critical leg events. Patients with positive aCL antibodies had a higher risk of distal artery events (a composite of ischaemic stroke or critical leg events) than patients with undetectable or low levels (rate ratio: 1.66; 95% CI: 1.07-2.60). However, an association with central coronary events was not found. The multivariate Cox analysis after adjustment for relevant clinical covariates showed that positivity of aCL antibodies is an independent risk factor for distal events (hazard ratio: 1.60; 95% CI: 1.01-2.55; P < .05). CONCLUSIONS: Positivity of aCL antibodies is associated with an increased risk of subsequent distal artery ischaemic events (cerebral or leg arteries) but not coronary artery events. Anticardiolipin antibodies appear to have a different relationship on the localisation of ischaemic events in patients with symptomatic artery disease.


Assuntos
Anticorpos Anticardiolipina/imunologia , Transtornos Cerebrovasculares/imunologia , Doença da Artéria Coronariana/imunologia , AVC Isquêmico/imunologia , Infarto do Miocárdio/imunologia , Doença Arterial Periférica/imunologia , Idoso , Feminino , Humanos , Isquemia/epidemiologia , Isquemia/imunologia , AVC Isquêmico/epidemiologia , Extremidade Inferior/irrigação sanguínea , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Infarto do Miocárdio/epidemiologia , Modelos de Riscos Proporcionais , Recidiva , Sistema de Registros
2.
J Stroke Cerebrovasc Dis ; 28(2): 276-284, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30612638

RESUMO

BACKGROUND: Studies suggest that fatigue and cognitive impairment may be present after transient ischemic attack (TIA) or minor stroke, but little is known about consequences in daily life. The main aim was to explore the presence of fatigue, cognitive impairment, and consequences in daily life after minor stroke-TIA. METHODS: Patients (n = 92) were consecutively recruited from the Stroke Unit and were assessed within 2 weeks of hospital admission for first-ever and 3 months later. Control participants (n = 89) were recruited from the same population as the patients. Measures included the Fatigue Assessment Scale (FAS), Montreal Cognitive Assessment (MoCA), and The European Quality of Life index (EQ-5D-5L). RESULTS: The prevalence of substantial fatigue was 65.2% (confidence interval [CI] 95%: 54.6%-74.8%) and extreme fatigue was 20.7% (CI 95%: 12.9%-30.4%) in minor stroke-TIA patients. The prevalence of substantial fatigue in controls was 23.5% (CI95%: 15.0%-34.0%) and extreme fatigue was 4.5% (CI 95%: 1.8%-11.0%). The mean (SD) score on the MoCA was 24.1 (3.2) for the patients group and 27.3 (2.4) for controls (P < .001). FAS showed the strongest negative correlation score with the EQ-5D-5L index (r = -0.480; P < .0001), higher levels of mental and physical fatigue are associated with lower EQ-5D-5L index (r = -0.376; P < .001 and r = -0.497; P <.001, respectively). The correlations between the FAS and the MoCA measures were no significant. MoCA was not significantly correlated with EQ-5D-5L. CONCLUSIONS: Fatigue was a very common symptom in TIA/minor stroke patients. The fatigue had a significant impact on the health-related quality of life construct in its entirety, even after accounting for the influence of several factors.


Assuntos
Fadiga/diagnóstico , Ataque Isquêmico Transitório/diagnóstico , Qualidade de Vida , Acidente Vascular Cerebral/diagnóstico , Atividades Cotidianas , Idoso , Cognição , Fadiga/epidemiologia , Fadiga/fisiopatologia , Fadiga/psicologia , Feminino , Nível de Saúde , Humanos , Ataque Isquêmico Transitório/epidemiologia , Ataque Isquêmico Transitório/fisiopatologia , Ataque Isquêmico Transitório/psicologia , Masculino , Pessoa de Meia-Idade , Prevalência , Prognóstico , Fatores de Risco , Espanha/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/fisiopatologia , Acidente Vascular Cerebral/psicologia , Fatores de Tempo
3.
J Neurol Neurosurg Psychiatry ; 84(6): 596-603, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23345284

RESUMO

BACKGROUND: Many guidelines recommend urgent intervention for patients with two or more transient ischaemic attacks (TIAs) within 7 days (multiple TIAs) to reduce the early risk of stroke. OBJECTIVE: To determine whether all patients with multiple TIAs have the same high early risk of stroke. METHODS: Between April 2008 and December 2009, we included 1255 consecutive patients with a TIA from 30 Spanish stroke centres (PROMAPA study). We prospectively recorded clinical characteristics. We also determined the short-term risk of stroke (at 7 and 90 days). Aetiology was categorised using the TOAST (Trial of Org 10172 in Acute Stroke Treatment) classification. RESULTS: Clinical variables and extracranial vascular imaging were available and assessed in 1137/1255 (90.6%) patients. 7-Day and 90-day stroke risk were 2.6% and 3.8%, respectively. Large-artery atherosclerosis (LAA) was confirmed in 190 (16.7%) patients. Multiple TIAs were seen in 274 (24.1%) patients. Duration <1 h (OR=2.97, 95% CI 2.20 to 4.01, p<0.001), LAA (OR=1.92, 95% CI 1.35 to 2.72, p<0.001) and motor weakness (OR=1.37, 95% CI 1.03 to 1.81, p=0.031) were independent predictors of multiple TIAs. The subsequent risk of stroke in these patients at 7 and 90 days was significantly higher than the risk after a single TIA (5.9% vs 1.5%, p<0.001 and 6.8% vs 3.0%, respectively). In the logistic regression model, among patients with multiple TIAs, no variables remained as independent predictors of stroke recurrence. CONCLUSIONS: According to our results, multiple TIAs within 7 days are associated with a greater subsequent risk of stroke than after a single TIA. Nevertheless, we found no independent predictor of stroke recurrence among these patients.


Assuntos
Ataque Isquêmico Transitório/complicações , Acidente Vascular Cerebral/etiologia , Idoso , Feminino , Humanos , Ataque Isquêmico Transitório/epidemiologia , Modelos Logísticos , Masculino , Modelos de Riscos Proporcionais , Estudos Prospectivos , Recidiva , Fatores de Risco
4.
Brain Sci ; 11(1)2021 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-33450843

RESUMO

(1) Background: The impact of the health crisis caused by coronavirus disease 2019 (COVID-19) has provoked collateral effects in the attention to pathologies with time-dependent treatments such as strokes. We compare the healthcare activity of two stroke units in the same periods of 2019 and 2020, with an emphasis on what happened during the state of alarm (SA). (2) Materials and methods. Hospitals in the region implemented contingency plans to contain the pandemic; in this planning, the stroke units were not limited in their operational capacity. The SA was declared on 15 March and remained in place for 10 weeks. For the analysis, the data were grouped by consecutive calendar weeks. (3) Results. When the SA was declared the number of calls to the emergency telephone went from 1225 to 3908 calls per week (318% increase). However, the activation of the stroke code went from 6.6 to 5.0 (p = 0.04) and the activity in both stroke units decreased. The largest drop in hospitalizations was for transient ischemic attacks (TIAs) with 35.7% less, 28 vs. 18, (p = 0.05). Reperfusion therapies fell by 37.5%; Poisson regression model 0.64; (95% confidence interval (CI), 0.43-0.95). The overall activity of the telestroke suffered a reduction of 28.9%. We also observed an increase in hospital mortality. (4) Conclusion. The excessive duration of the pandemic precludes any hope of resolving this public health crisis in the short or medium term. Further studies should be conducted to better understand the multifactorial nature of this dramatic decline in stroke admissions and its negative impact.

5.
JACC Cardiovasc Interv ; 12(9): 873-882, 2019 05 13.
Artigo em Inglês | MEDLINE | ID: mdl-31072509

RESUMO

OBJECTIVES: The aim of the HISPANIAS (HyperperfusIon Syndrome Post-carotid ANgIoplasty And Stenting) study was to define CHS rates and develop a clinical predictive model for cerebral hyperperfusion syndrome (CHS) after carotid artery stenting (CAS). BACKGROUND: CHS is a severe complication following CAS. The presence of clinical manifestations is estimated on the basis of retrospective reviews and is still uncertain. METHODS: The HISPANIAS study was a national prospective multicenter study with 14 recruiting hospitals. CHS was classified as mild (headache only) and moderate-severe (seizure, impaired level of consciousness, or development of focal neurological signs). RESULTS: A total of 757 CAS procedures were performed. CHS occurred in 22 (2.9%) patients, in which 16 (2.1%) had moderate-severe CHS and 6 (0.8%) had mild CHS (only headache). The rate of hemorrhages was 0.7% and was associated with high mortality (20%). Pre-operative predictors of moderate-severe CHS in multivariate analysis were female sex (odds ratio [OR]: 3.24; 95% confidence interval [CI]: 1.11 to 9.47; p = 0.03), older patients (OR: 1.09; 95% CI: 1.01 to 1.17; p = 0.02), left carotid artery treated (OR: 4.13; 95% CI: 1.11 to 15.40; p = 0.03), and chronic renal failure (OR: 6.29; 95% CI: 1.75 to 22.57; p = 0.005). The area under the curve of this clinical and radiological model was 0.86 (95% CI: 0.81 to 0.92; p = 0.001). CONCLUSIONS: The rate of CHS in the HISPANIAS study was 2.9%, with moderate-severe CHS of 2.1%. CHS was independently associated with female sex, older age, history of chronic kidney disease, and a treated left carotid artery. Although further investigations are needed, the authors propose a model to identify high-risk patients and develop strategies to decrease CHS morbidity and mortality in the future.


Assuntos
Estenose das Carótidas/terapia , Circulação Cerebrovascular , Transtornos Cerebrovasculares/epidemiologia , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/instrumentação , Hemodinâmica , Stents , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Estenose das Carótidas/diagnóstico por imagem , Estenose das Carótidas/mortalidade , Estenose das Carótidas/fisiopatologia , Transtornos Cerebrovasculares/diagnóstico , Transtornos Cerebrovasculares/mortalidade , Transtornos Cerebrovasculares/fisiopatologia , Transtornos da Consciência/epidemiologia , Transtornos da Consciência/fisiopatologia , Procedimentos Endovasculares/mortalidade , Feminino , Cefaleia/epidemiologia , Cefaleia/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Insuficiência Renal Crônica/epidemiologia , Medição de Risco , Fatores de Risco , Convulsões/epidemiologia , Convulsões/fisiopatologia , Índice de Gravidade de Doença , Fatores Sexuais , Espanha/epidemiologia , Fatores de Tempo , Resultado do Tratamento
6.
Rev. neurol. (Ed. impr.) ; 71(8): 298-312, 16 oct., 2020.
Artigo em Espanhol | IBECS (Espanha) | ID: ibc-200175

RESUMO

Estudios epidemiológicos han demostrado que la mortalidad aumenta en los pacientes con epilepsia en comparación con la población general, lo que se ha asociado con un mayor riesgo de eventos cardiovasculares o cerebrovasculares. No está claramente establecido el papel que desempeñan los factores de riesgo vascular clásicos y otros más especulativos (por ejemplo, el estrés oxidativo) en el desarrollo de la enfermedad vascular en estos sujetos. En este contexto, los fármacos antiepilépticos (FAE) pueden influir de manera diferencial en el riesgo vascular de los pacientes con epilepsia, ya que se ha relacionado a los inductores enzimáticos con el desarrollo de ateroesclerosis precoz. El papel de los FAE en la patogénesis de la ateroesclerosis no se conoce completamente, pero hay varias explicaciones plausibles: pueden condicionar un perfil lipídico desfavorable, pueden aumentar los niveles de proteína C reactiva y homocisteinemia, así como los factores de la coagulación, y pueden incrementar el estrés oxidativo. El uso prolongado de FAE puede asociarse con una amplia gama de efectos adversos crónicos, y también pueden desempeñar un papel fundamental en la patogenia de la ateroesclerosis en pacientes con epilepsia. Neurólogos y epileptólogos que prescriben FAE deben ser conscientes de los efectos potencialmente desfavorables, en especial en pacientes con alto riesgo de eventos vasculares. Esta revisión analiza los mecanismos fisiopatológicos que pueden explicar un mayor riesgo vascular en la epilepsia, la evidencia con respecto a la ateroesclerosis acelerada y sus complicaciones, y las potenciales implicaciones en el seguimiento y el tratamiento de la enfermedad


Epidemiological studies have shown that mortality increases in patients with epilepsy compared to the general population, and this has been associated with an increased risk of cardiovascular or cerebrovascular events. The role played by classic and more speculative vascular risk factors (e.g. oxidative stress) in the development of vascular disease in these subjects has not yet been clearly established. In this context, antiepileptic drugs (AEDs) may have a differential influence on the vascular risk of patients with epilepsy, as enzyme inducers have been linked to the development of early atherosclerosis. The role of AEDs in the pathogenesis of atherosclerosis is not fully understood, but there are several plausible explanations: they can condition an unfavourable lipid profile, they can increase levels of C-reactive protein and homocysteinaemia, as well as clotting factors, and they can increase oxidative stress. Prolonged use of AEDs can be associated with a wide range of chronic adverse effects, and may also play a key role in the pathogenesis of atherosclerosis in patients with epilepsy. Neurologists and epileptologists who prescribe AEDs should be aware of the potentially unfavourable effects, especially in patients at high risk of vascular events. This review examines the pathophysiological mechanisms that may explain increased vascular risk in epilepsy, the evidence regarding accelerated atherosclerosis and its complications, and the potential implications for follow-up and treatment of the disease


Assuntos
Humanos , Epilepsia/complicações , Epilepsia/fisiopatologia , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/fisiopatologia , Transtornos Cerebrovasculares/etiologia , Transtornos Cerebrovasculares/fisiopatologia , Fatores de Risco
7.
BMC Res Notes ; 8: 604, 2015 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-26499113

RESUMO

BACKGROUND: Public health is increasingly concerned with recognising factors that lead to sex differences in stroke. We conducted a study to determine the effect of sex on knowledge of stroke risk factors and warning signs, and how both are perceived, in a representative sample of adults. METHODS: A representative sample of the population of Extremadura, Spain was selected using a double randomisation technique. Previously trained medical students carried out face-to-face interviews using a structured questionnaire. RESULTS: 2409 subjects were interviewed [59.9 % women; mean age (SD) 49.0 (18.7) years]. Seventy-three percent of all subjects reported at least one correct warning sign of stroke (OR: 1.01; 95 % CI: 0.84-1.21). The most frequently mentioned warning signs were sudden weakness, dizziness, and headache. There were no sex differences regarding the types of warning symptoms that respondents listed. Women displayed better knowledge of risk factors than men (OR: 1.23; 95 % CI: 1.05-1.46). Women were more likely to name hypertension as a risk factor for stroke whereas men more frequently listed smoking, alcohol consumption and a sedentary lifestyle as risk factors. In response to stroke, women were significantly less likely than men to choose to call an ambulance or to go immediately to hospital (OR: 0.69; 95 % CI: 0.60-0.85). CONCLUSIONS: Stroke knowledge is suboptimal in both men and women. We detected better knowledge of stroke risk factors in women, as well as differences in the type of risk factors listed by men and women. There were significant sex differences regarding response to stroke or to its warning signs.


Assuntos
Conscientização , Fatores Sexuais , Acidente Vascular Cerebral/diagnóstico , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Espanha , Acidente Vascular Cerebral/fisiopatologia
9.
Rev Neurol ; 54(6): 357-66, 2012 Mar 16.
Artigo em Espanhol | MEDLINE | ID: mdl-22403149

RESUMO

Acquired brain injury is a heterogeneous clinical concept that goes beyond the limits of the classical medical view, which tends to define processes and diseases on the grounds of a single causation. Although in the medical literature it appears fundamentally associated to traumatic brain injury, there are many other causes and management is similar in all of them, during the post-acute and chronic phases, as regards the measures to be taken concerning rehabilitation and attention to dependence. Yet, despite being an important health issue, today we do not have a set of diagnostic criteria or a classification for this condition. This is a serious handicap when it comes to carrying out epidemiological studies, designing specific care programmes and comparing results among different programmes and centres. Accordingly, the Extremadura Acquired Brain Injury Health Care Plan working group has drawn up these proposed diagnostic criteria, definition and classification. The proposal is intended to be essentially practical, its main purpose being to allow correct identification of the cases that must be attended to and to optimise the use of neurorehabilitation and attention to dependence resources, thereby ensuring attention is provided on a fair basis.


Assuntos
Lesões Encefálicas/classificação , Lesões Encefálicas/diagnóstico , Encefalopatias/classificação , Encefalopatias/complicações , Lesões Encefálicas/etiologia , Lesões Encefálicas/reabilitação , Transtornos Cerebrovasculares/complicações , Traumatismos Craniocerebrais/complicações , Árvores de Decisões , Encefalite/complicações , Humanos , Hipóxia Encefálica/complicações , Transtornos Mentais/etiologia , Neoplasias/complicações , Exame Neurológico , Estado Vegetativo Persistente/etiologia , Agitação Psicomotora/etiologia , Terminologia como Assunto , Índices de Gravidade do Trauma
10.
Rev Neurol ; 50(10): 591-4, 2010 May 16.
Artigo em Espanhol | MEDLINE | ID: mdl-20473834

RESUMO

INTRODUCTION: LRRK2 mutations have been described as a common cause of Parkinson's disease (PD) in patients from northern Spain. Here we investigated the prevalence of these mutations in a cohort of Spanish PD patients (n = 96) from Extremadura, a region in southwestern Spain. SUBJECTS AND METHODS: To evaluate the rate of the G2019S and R1441G/C/H LRKK2 mutations in PD patients and healthy controls (n = 163). RESULTS: Here we show that the G2019S mutation is present at a low prevalence in our Spanish cohort, while the R1441G/C/H mutation, which has been reported to be common in northern Spain, was not observed in the PD patients or in the controls. CONCLUSION: LRRK2 mutations do not appear to be a common cause of Parkinson's disease in Extremadura, Spain.


Assuntos
Códon , Mutação , Doença de Parkinson/genética , Proteínas Serina-Treonina Quinases/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Marcadores Genéticos , Predisposição Genética para Doença , Testes Genéticos , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Masculino , Pessoa de Meia-Idade , Linhagem , Espanha
13.
Rev. neurol. (Ed. impr.) ; 54(6): 357-366, 16 mar., 2012. ilus, tab
Artigo em Espanhol | IBECS (Espanha) | ID: ibc-99558

RESUMO

El daño cerebral sobrevenido es un concepto clínico heterogéneo que supera la clásica visión médica, tendente a definir los procesos y enfermedades a partir de una etiología única. Aunque en la literatura médica aparece asociado fundamentalmente al traumatismo craneoencefálico, existen otras muchas causas y el abordaje de todas ellas es similar, durante las fases postaguda y crónica, en lo referente a las medidas de rehabilitación y atención a la dependencia. Sin embargo, a pesar de ser un importante problema de salud, hoy en día carecemos de unos criterios diagnósticos y de una clasificación para esta entidad. Esto supone un importante hándicap para la elaboración de estudios epidemiológicos, el diseño de programas asistenciales específicos y la comparación de resultados entre diferentes programas y centros. Por ello, el Grupo de Trabajo del Plan de Atención al Daño Cerebral Sobrevenido de Extremadura ha realizado esta propuesta de definición, criterios diagnósticos y clasificación, que tiene un carácter eminentemente práctico, con la finalidad de identificar correctamente los casos que deben ser atendidos y optimizar el uso de los recursos de neurorrehabilitación y atención a la dependencia, garantizando la equidad en la atención (AU)


Acquired brain injury is a heterogeneous clinical concept that goes beyond the limits of the classical medical view, which tends to define processes and diseases on the grounds of a single causation. Although in the medical literature it appears fundamentally associated to traumatic brain injury, there are many other causes and management is similar in all of them, during the post-acute and chronic phases, as regards the measures to be taken concerning rehabilitation and attention to dependence. Yet, despite being an important health issue, today we do not have a set of diagnostic criteria or a classification for this condition. This is a serious handicap when it comes to carrying out epidemiological studies, designing specific care programmes and comparing results among different programmes and centres. Accordingly, the Extremadura Acquired Brain Injury Health Care Plan working group has drawn up these proposed diagnostic criteria, definition and classification. The proposal is intended to be essentially practical, its main purpose being to allow correct identification of the cases that must be attended to and to optimise the use of neurorehabilitation and attention to dependence resources, thereby ensuring attention is provided on a fair basis (AU)


Assuntos
Humanos , Dano Encefálico Crônico/classificação , Lesão Encefálica Crônica/classificação , Hipóxia Encefálica/classificação , Traumatismos Craniocerebrais/reabilitação , Continuidade da Assistência ao Paciente/organização & administração
14.
Hipertens. riesgo vasc ; 28(3): 108-111, Mayo - Jun. 2011. ilus, tab
Artigo em Espanhol | IBECS (Espanha) | ID: ibc-108779

RESUMO

Las microhemorragias cerebrales son pequeños puntos que aparecen como hipointensidades de señal en secuencias de resonancia magnética eco de gradiente T2*. Representan áreas microscópicas de viejos depósitos de hemosiderina. Son frecuentes en el contexto de la enfermedad cerebrovascular sintomática y también en las personas mayores sanas, sugiriéndose un vínculo con la hipertensión arterial. Su uso como biomarcador de diagnóstico o pronóstico sigue siendo incierto. La aparición de estos micro sangrados y el creciente uso de la resonancia magnética en la práctica clínica provocan muchos dilemas clínicos. Presentamos el caso de una mujer con hipertensión arterial de difícil control ingresada con una hemorragia cerebral bilateral simultánea, objetivándose microsangrados múltiples en la resonancia magnética. Discutimos la identificación y significado de estas lesiones hemorrágicas (AU)


Brain micro bleeds are small dot-like lesions appearing as hyposignal on gradientecho T2* MR sequences. They represent microscopic areas of old hemosider in deposits. They are frequent in the setting of symptomatic cerebrovascular disease and also in older healthy people, which suggests a link with arterial hypertension. Their use as diagnostic or prognostic biomarkers remains uncertain. The appearance of these microbleedings and increasing use ofMagnetic resonance imaging (MRI) in the clinical practice causes many clinical dilemmas. Wereport the case of a woman with difficult to control hypertension, who was admitted withbilateral simultaneous cerebral hemorrhage, multiple microbleedings being observed in thecerebral magnetic resonance. We discuss the identification and meaning of these hemorrhagiclesions (AU)


Assuntos
Humanos , Hipertensão/complicações , Ataque Isquêmico Transitório/fisiopatologia , Hemorragia Intracraniana Hipertensiva/fisiopatologia , Fatores de Risco , Espectroscopia de Ressonância Magnética
15.
Rev. neurol. (Ed. impr.) ; 50(10): 591-594, 16 mayo, 2010. tab, ilus
Artigo em Espanhol | IBECS (Espanha) | ID: ibc-86665

RESUMO

Introducción. Las mutaciones en el gen que codifica para la proteína LRRK2 se han asociado frecuentemente con la enfermedad de Parkinson (EP) en pacientes en el norte de España. En este artículo se determina la prevalencia de algunas de las mutaciones más frecuentes en una cohorte de pacientes con EP (n = 96) en Extremadura, región situada en el suroeste de España. Sujetos y métodos. Se pretende determinar la presencia de las mutaciones G2019S y R1441G/C/H de LRRK2 en pacientes con EP y en individuos sanos (n = 196). Resultados. La mutación G2019S se presenta con una baja prevalencia en nuestra muestra, mientras que las mutaciones R1441G/C/H, frecuentes en el norte de España, no se han detectado en la muestra de enfermos ni en los controles. Conclusión. Las mutaciones en LRRK2 no parecen ser una causa frecuente de la EP en Extremadura (AU)


Introduction. LRRK2 mutations have been described as a common cause of Parkinson’s disease (PD) in patients from northern Spain. Here we investigated the prevalence of these mutations in a cohort of Spanish PD patients (n = 96) from Extremadura, a region in southwestern Spain. Subjects and methods. To evaluate the rate of the G2019S and R1441G/C/H LRKK2 mutations in PD patients and healthy controls (n = 163). Results. Here we show that the G2019S mutation is present at a low prevalence in our Spanish cohort, while the R1441G/C/H mutation, which has been reported to be common in northern Spain, was not observed in the PD patients or in the controls. Conclusion. LRRK2 mutations do not appear to be a common cause of Parkinson’s disease in Extremadura, Spain (AU)


Assuntos
Humanos , Doença de Parkinson/genética , Mutação , Marcadores Genéticos , Predisposição Genética para Doença , Estudos de Casos e Controles
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