[Cadmium polyneuropathy: a rare, but not less important, cause of peripheral neuropathy]. / Polineuropatía por cadmio: una causa infrecuente, pero no menos importante, de neuropatía periférica.

INTRODUCTION: Cadmium is an important heavy metal in neurobiology, with potential neurotoxic effects, often in the form of polyneuropathy (PNP). CASE REPORT: We present an exceptional case of PNP due to cadmium of toxic-occupational origin, specifically a 47-year-old man, aeronautical mechanic, with a 5-year clinical picture, consisting of a tingling sensation having a 'glove and stocking' distribution of symptoms and bimanual manipulative clumsiness. The neurological examination revealed bilateral achilles hyporeflexia and protopathic-thermal-algesic exteroceptive hypoesthesia in hands and feet. The following complementary rests were requested: toxic-metabolic-infectious-vitamin profile, full craniospinal MRI, electroneurographic-electromyographic study (ENG-EMG) of the upper and lower limbs, PET-CT body and 24-hour video-electroencephalogram. The results were consistent with an axonal, distal, symmetric sensory-motor PNP, of moderate intensity, chronic evolution, with active denervation, of toxic-occupational origin due to cadmium. The patient continued on sick leave to cease exposure to cadmium, initiating intensive multimodal neurorehabilitation program, with serial analytical determinations of toxins and new ENG-EMG studies every 6 months. With normalization of the altered values ??and complete clinical restitution at one-year follow-up. CONCLUSIONS: This case highlights the importance of including the toxicological determination of cadmium in case of suspicion of a PNP of toxic-occupational origin, once ruled out other etiologies, in order to early interrupt occupational exposure, as it is a potentially reversible cause of peripheral neuropathy. Currently there is no specific pharmacological treatment against cadmium tested in humans. Randomized clinical trials carried out in these patients are warranted to develop an anti-cadmium drug in refractory cases despite the end of exposure.

TITLE: Polineuropatía por cadmio: una causa infrecuente, pero no menos importante, de neuropatía periférica.Introducción. El cadmio es un metal pesado importante en neurobiología, con potenciales efectos neurotóxicos, frecuentemente en forma de polineuropatía. Caso clínico. Presentamos un caso excepcional de polineuropatía por cadmio de origen tóxico-ocupacional, en concreto, un varón de 47 años, mecánico aeronáutico, con un cuadro de cinco años de evolución, consistente en sensación de hormigueo 'en guante y calcetín' y torpeza manipulativa bimanual. En la exploración destacaba una hiporreflexia aquílea bilateral, y una hipoestesia exteroceptiva protopático-térmico-algésica en las manos y los pies. Se solicitó analítica general completa con perfil tóxico-metabólico-infeccioso-vitamínico, resonancia magnética craneomedular completa, estudio electroneurográfico-electromiográfico de los miembros superiores e inferiores, tomografía por emisión de positrones-tomografía axial computarizada body y videoelectroencefalograma de 24 horas. Los resultados fueron compatibles con una polineuropatía sensitivomotora axonal, distal, simétrica, de intensidad moderada, de evolución crónica y desnervación activa, de origen tóxico-ocupacional por cadmio. El paciente prosiguió la baja laboral para cesar la exposición al cadmio, iniciando neurorrehabilitación intensiva multimodal, y determinaciones analíticas seriadas de tóxicos y nuevos estudios electroneurográficos-electromiográficos cada seis meses, con normalización de los valores alterados y restitución clínica ad integrum al año. Conclusiones. Este caso enfatiza la importancia de incluir la determinación toxicológica del cadmio ante la sospecha de una polineuropatía de origen tóxico-ocupacional, descartadas otras etiologías, para interrumpir precozmente dicha exposición laboral, al ser una causa potencialmente reversible de neuropatía periférica. Actualmente no existe un tratamiento farmacológico específico frente al cadmio demostrado en seres humanos. Urgen ensayos clínicos aleatorizados en estos pacientes, para desarrollar un fármaco frente al cadmio en casos refractarios pese a finalizar la exposición.

Polineuropatía por cadmio: una causa infrecuente, pero no menos importante, de neuropatía periférica / Cadmium polyneuropathy: a rare, but not less important, cause of peripheral neuropathy

Introducción: El cadmio es un metal pesado importante en neurobiología, con potenciales efectos neurotóxicos, frecuentemente en forma de polineuropatía. Caso clínico: Presentamos un caso excepcional de polineuropatía por cadmio de origen tóxico-ocupacional, en concreto, un varón de 47 años, mecánico aeronáutico, con un cuadro de cinco años de evolución, consistente en sensación de hormigueo ‘en guante y calcetín’ y torpeza manipulativa bimanual. En la exploración destacaba una hiporreflexia aquílea bilateral, y una hipoestesia exteroceptiva protopático-térmico-algésica en las manos y los pies. Se solicitó analítica general completa con perfil tóxico-metabólico-infeccioso-vitamínico, resonancia magnética craneomedular completa, estudio electroneurográfico-electromiográfico de los miembros superiores e inferiores, tomografía por emisión de positrones-tomografía axial computarizada body y videoelectroencefalograma de 24 horas. Los resultados fueron compatibles con una polineuropatía sensitivomotora axonal, distal, simétrica, de intensidad moderada, de evolución crónica y desnervación activa, de origen tóxico-ocupacional por cadmio. El paciente prosiguió la baja laboral para cesar la exposición al cadmio, iniciando neurorrehabilitación intensiva multimodal, y determinaciones analíticas seriadas de tóxicos y nuevos estudios electroneurográficos-electromiográficos cada seis meses, con normalización de los valores alterados y restitución clínica ad integrum al año. Conclusiones: Este caso enfatiza la importancia de incluir la determinación toxicológica del cadmio ante la sospecha de una polineuropatía de origen tóxico-ocupacional, descartadas otras etiologías, para interrumpir precozmente dicha exposición laboral, al ser una causa potencialmente reversible de neuropatía periférica. Actualmente no existe un tratamiento farmacológico específico frente al cadmio demostrado en seres humanos.(AU)

Introduction: Cadmium is an important heavy metal in neurobiology, with potential neurotoxic effects, often in the form of polyneuropathy (PNP). Case report: We present an exceptional case of PNP due to cadmium of toxic-occupational origin, specifically a 47-year-old man, aeronautical mechanic, with a 5-year clinical picture, consisting of a tingling sensation having a ‘glove and stocking’ distribution of symptoms and bimanual manipulative clumsiness. The neurological examination revealed bilateral achilles hyporeflexia and protopathic-thermal-algesic exteroceptive hypoesthesia in hands and feet. The following complementary rests were requested: toxic-metabolic-infectious-vitamin profile, full craniospinal MRI, electroneurographic-electromyographic study (ENG-EMG) of the upper and lower limbs, PET-CT body and 24-hour video-electroencephalogram. The results were consistent with an axonal, distal, symmetric sensory-motor PNP, of moderate intensity, chronic evolution, with active denervation, of toxic-occupational origin due to cadmium. The patient continued on sick leave to cease exposure to cadmium, initiating intensive multimodal neurorehabilitation program, with serial analytical determinations of toxins and new ENG-EMG studies every 6 months. With normalization of the altered values ​​and complete clinical restitution at one-year follow-up. Conclusions: This case highlights the importance of including the toxicological determination of cadmium in case of suspicion of a PNP of toxic-occupational origin, once ruled out other etiologies, in order to early interrupt occupational exposure, as it is a potentially reversible cause of peripheral neuropathy. Currently there is no specific pharmacological treatment against cadmium tested in humans. Randomized clinical trials carried out in these patients are warranted to develop an anti-cadmium drug in refractory cases despite the end of exposure.(AU)

Cerebrospinal and blood levels of amino acids as potential biomarkers for Parkinson's disease: review and meta-analysis.

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.

Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans.

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.

Update on genetics of essential tremor.

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.

Fungal infection in cerebrospinal fluid from some patients with multiple sclerosis.

Multiple sclerosis (MS) is the prototypical inflammatory disease of the central nervous system and spinal cord, leading to axonal demyelination of neurons. Recently, we have found a correlation between fungal infection and MS in peripheral blood of patients. The present work provides evidence of fungal infection in the cerebrospinal fluid (CSF) of some MS patients. Thus, fungal antigens can be demonstrated in CSF, as well as antibodies reacting against several Candida species. Comparison was made between CSF and blood serum for the presence of fungal antigens (proteins) and antibodies against different Candida spp. Analyses of both CSF and serum are complementary and serve to better evaluate for the presence of disseminated fungal infection. In addition, PCR analyses indicate the presence of DNA from different fungal species in CSF, depending on the patient analyzed. Overall, these findings support the notion that fungal infection can be demonstrated in CSF from some MS patients. This may constitute a risk factor in this disease and could also help in understanding the pathogenesis of MS.

Spontaneous intracranial hypotension syndrome treated with a double epidural blood patch.

Spontaneous intracranial hypotension (SIH) is considered to be a very rare disease. It is characterised by an orthostatic headache in the absence of a past history of a trauma or a dural puncture. SIH is caused by a spontaneous spinal cerebrospinal fluid (CSF) leakage demonstrated by neuroradiological studies in most of the patients. Conservative treatment usually includes bed rest, hydration and administration of caffeine or steroids. However, when the patient is refractory to the conservative treatment, an epidural blood patch (EBP) is performed. We report a 34-year-old woman with SIH and no neuroradiologically demonstrable clear point of CSF leakage, who was treated with a double EBP at two different levels (lumbar and thoracic) in the same procedure. The patient was successfully managed, and she was still asymptomatic at the 18 months follow-up. After review of literature, we observed that execution of a double EBP at the same time is not a common procedure for treatment of SIH. We consider that simultaneous use of two EBP could be useful as a novel treatment in those cases of SIH without demonstration of CSF leakage.

Recomendaciones para el soporte nutricional y metabólico especializado del paciente crítico. Actualización. Consenso SEMICYUC-SENPE: Insuficiencia renal aguda / Guidelines for specialized nutritional and metabolic support in the critically-ill patient. Update. Consensus of the Spanish Society of Intensive Care Medicine and Coronary Units-Spanish Society of Parenteral and Enteral Nutrition (SEMICYUC-SENPE): Acute renal failure

El soporte nutricional en la insuficiencia renal aguda está condicionado por el catabolismo del paciente y por el tratamiento del fallo renal. En el paciente crítico es frecuente el fracaso hipermetabólico que obliga a técnicas continuas de reemplazo renal o a hemodiálisis diarias. En los enfermos con catabolismo normal (aparición de nitrógeno ureico inferior a 10 g/ día) y diuresis conservada se puede intentar un tratamiento conservador. En estos casos es preciso realizar un soporte nutricional relativamente hipoprotéico, con proteínas de alto valor biológico y limitaciones hidroelectrolíticas individualizadas. Es necesario un ajuste del aporte de micronutrientes, siendo el bicarbonato el único buffer utilizado. Cuando se utilizan técnicas de depuración extrarrenal desaparecen las limitaciones a los aportes hidroelectrolíticos y nitrogenados, pero éstos deben ser modificados en función del tipo de depuración. Los sistemas continuos de reemplazo renal, en función de su lujo de hemoiltración, precisan altos aporte nitrogenados diarios que en ocasiones pueden alcanzar los 2,5 g de proteínas/ kg. La cuantía de la reposición de volumen puede inducir sobrecargas energéticas, siendo recomendable utilizar líquidos de reposición y diálisis sin glucosa o con una concentración de glucosa de 1 g/ l, con bicarbonato como buffer. Es preciso monitorizar los valores de electrolitos (sobre todo de fósforo, potasio y magnesio) y de micronutrientes, y realizar aportes individualizados (AU)

Nutritional support in acute renal failure must take into account the patient’s catabolism and the treatment of the renal failure. Hypermetabolic failure is common in these patients, requiring continuous renal replacement therapy or daily hemodialysis. In patients with normal catabolism (urea nitrogen below 10 g/ day) and preserved diuresis, conservative treatment can be attempted. In these patients, relatively hypoproteic nutritional support is essential, using proteins with high biological value and limiting luid and electrolyte intake according to the patient’s individual requirements. Micronutrient intake should be adjusted, the only buffering agent used being bicarbonate. Limitations on luid, electrolyte and nitrogen intake no longer apply when extrarenal clearance techniques are used but intake of these substances should be modified according to the type of clearance. Depending on their hemoiltration low, continuous renal replacement systems require high daily nitrogen intake, which can sometimes reach 2.5 g protein/kg. The amount of volume replacement can induce energy overload and therefore the use of glucose-free replacement luids and glucose-free dialysis or a glucose concentration of 1 g/L, with bicarbonate as a buffer, is recommended. Monitoring of electrolyte levels (especially those of phosphorus, potassium and magnesium)and of micronutrients is essential and administration of these substances should be individually- tailored (AU)

Recomendaciones para el soporte nutricional y metabólico especializado del paciente crítico. Actualización. Consenso SEMICYUC-SENPE: Paciente cardíaco / Guidelines for specialized nutritional and metabolic support in the critically-ill patient. Update. Consensus of the Spanish Society of Intensive Care Medicine and Coronary Units-Spanish Society of Parenteral and Enteral Nutrition

El paciente con patología cardíaca puede presentar 2 tipos de desnutrición: la caquexia cardíaca, que aparece en situaciones de insuficiencia cardíaca congestiva crónica, y una malnutrición secundaria a complicaciones de la cirugía cardíaca o de cualquier cirugía mayor realizada en pacientes con cardiopatía. Se debe intentar una nutrición enteral precoz si no se puede utilizar la vía oral. Cuando la función cardíaca esté profundamente comprometida la nutrición enteral es posible, pero a veces precisará suplementación con nutrición parenteral. La hiperglucemia aguda sostenida en las primeras 24 h en pacientes ingresados por síndrome coronario agudo, sean o no diabéticos, es un factor de mal pronóstico en términos de mortalidad a los 30 días. En el paciente crítico cardíaco con fallo hemodinámico en situación estable, un soporte nutricional de 20-25 kcal/kg/día es eficaz para mantener un estado nutricional adecuado. El aporte proteico debe ser de 1,2-1,5 g/kg/día. Se administrarán fórmulas poliméricas o hiperproteicas habituales, según la situación nutricional previa del paciente, con restricción de sodio y volumen según su situación clínica. La glutamina es la mayor fuente de energía para el miocito, vía conversión a glutamato, protegiendo además a la célula miocárdica de la isquemia en situaciones críticas. La administración de 1 g/ día de w-3 (EPA+DHA), en forma de aceite de pescado, puede prevenir la muerte súbita en el tratamiento del síndrome coronario agudo y también puede contribuir a una disminución de los ingresos hospitalarios, por eventos cardiovasculares, en la insuficiencia cardíaca crónica (AU)

Patients with cardiac disease can develop two types of malnutrition: cardiac cachexia, which appears in chronic congestive heart failure, and malnutrition due to the complications of cardiac surgery or any other type of surgery in patients with heart disease. Early enteral nutrition should be attempted if the oral route cannot be used. When cardiac function is severely compromised, enteral nutrition is feasible, but supplementation with parenteral nutrition is sometimes required. Sustained hyperglycemia in the first 24 hours in patients admitted for acute coronary syndrome, whether diabetic or not, is a poor prognostic factor for 30-day mortality. In critically- ill cardiac patients with stable hemodynamic failure, nutritional support of 20-25 kcal/ kg/ day is effective in maintaining adequate nutritional status. Protein intake should be 1.2-1.5 g/ kg/ day. Routine polymeric or high protein formulae should be used, according to the patient’s prior nutritional status, with sodium and volume restriction according to the patient’s clinical situation. The major energy source for myocytes is glutamine, through conversion to glutamate, which also protects the myocardial cell from ischemia in critical situations. Administration of 1 g/ day of omega-3 (EPA+DHA) in the form of fish oil can prevent sudden death in the treatment of acute coronary syndrome and can also help to reduce hospital admission for cardiovascular events in patients with chronic heart failure (AU)

Lack of association of LINGO1 rs9652490 and rs11856808 SNPs with familial essential tremor.

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.

[Guidelines for specialized nutritional and metabolic support in the critically-ill patient. Update. Consensus of the Spanish Society of Intensive Care Medicine and Coronary Units-Spanish Society of Parenteral and Enteral Nutrition (SEMICYUC-SENPE): acute renal failure]. / Recomendaciones para el soporte nutricional y metabólico especializado del paciente crítico. Actualización. Consenso SEMICYUC-SENPE: insuficiencia renal aguda.

Nutritional support in acute renal failure must take into account the patient's catabolism and the treatment of the renal failure. Hypermetabolic failure is common in these patients, requiring continuous renal replacement therapy or daily hemodialysis. In patients with normal catabolism (urea nitrogen below 10 g/day) and preserved diuresis, conservative treatment can be attempted. In these patients, relatively hypoproteic nutritional support is essential, using proteins with high biological value and limiting fluid and electrolyte intake according to the patient's individual requirements. Micronutrient intake should be adjusted, the only buffering agent used being bicarbonate. Limitations on fluid, electrolyte and nitrogen intake no longer apply when extrarenal clearance techniques are used but intake of these substances should be modified according to the type of clearance. Depending on their hemofiltration flow, continuous renal replacement systems require high daily nitrogen intake, which can sometimes reach 2.5 g protein/kg. The amount of volume replacement can induce energy overload and therefore the use of glucose-free replacement fluids and glucose-free dialysis or a glucose concentration of 1 g/L, with bicarbonate as a buffer, is recommended. Monitoring of electrolyte levels (especially those of phosphorus, potassium and magnesium) and of micronutrients is essential and administration of these substances should be individually-tailored.

[Guidelines for specialized nutritional and metabolic support in the critically-ill patient. Update. Consensus of the Spanish Society of Intensive Care Medicine and Coronary Units-Spanish Society of Parenteral and Enteral Nutrition (SEMICYUC-SENPE): cardiac patient]. / Recomendaciones para el soporte nutricional y metabólico especializado del paciente crítico. Actualización. Consenso SEMICYUC-SENPE: paciente cardíaco.

Patients with cardiac disease can develop two types of malnutrition: cardiac cachexia, which appears in chronic congestive heart failure, and malnutrition due to the complications of cardiac surgery or any other type of surgery in patients with heart disease. Early enteral nutrition should be attempted if the oral route cannot be used. When cardiac function is severely compromised, enteral nutrition is feasible, but supplementation with parenteral nutrition is sometimes required. Sustained hyperglycemia in the first 24 hours in patients admitted for acute coronary syndrome, whether diabetic or not, is a poor prognostic factor for 30-day mortality. In critically-ill cardiac patients with stable hemodynamic failure, nutritional support of 20-25 kcal/kg/day is effective in maintaining adequate nutritional status. Protein intake should be 1.2*-1.5 g/kg/day. Routine polymeric or high protein formulae should be used, according to the patient's prior nutritional status, with sodium and volume restriction according to the patient's clinical situation. The major energy source for myocytes is glutamine, through conversion to glutamate, which also protects the myocardial cell from ischemia in critical situations. Administration of 1 g/ day of omega-3 (EPA+DHA) in the form of fish oil can prevent sudden death in the treatment of acute coronary syndrome and can also help to reduce hospital admission for cardiovascular events in patients with chronic heart failure.

Guidelines for specialized nutritional and metabolic support in the critically-ill patient: update. Consensus SEMICYUC-SENPE: acute renal failure.

Nutritional support in acute renal failure must take into account the patient's catabolism and the treatment of the renal failure. Hypermetabolic failure is common in these patients, requiring continuous renal replacement therapy or daily hemodialysis. In patients with normal catabolism (urea nitrogen below 10 g/day) and preserved diuresis, conservative treatment can be attempted. In these patients, relatively hypoproteic nutritional support is essential, using proteins with high biological value and limiting fluid and electrolyte intake according to the patient's individual requirements. Micronutrient intake should be adjusted, the only buffering agent used being bicarbonate. Limitations on fluid, electrolyte and nitrogen intake no longer apply when extrarenal clearance techniques are used but intake of these substances should be modified according to the type of clearance. Depending on their hemofiltration flow, continuous renal replacement systems require high daily nitrogen intake, which can sometimes reach 2.5 g protein/kg. The amount of volume replacement can induce energy overload and therefore the use of glucose-free replacement fluids and glucose-free dialysis or a glucose concentration of 1 g/L, with bicarbonate as a buffer, is recommended. Monitoring of electrolyte levels (especially those of phosphorus, potassium and magnesium) and of micronutrients is essential and administration of these substances should be individually-tailored.

Guidelines for specialized nutritional and metabolic support in the critically-ill patient: update. Consensus SEMICYUC-SENPE: cardiac patient.

Patients with cardiac disease can develop two types of malnutrition: cardiac cachexia, which appears in chronic congestive heart failure, and malnutrition due to the complications of cardiac surgery or any other type of surgery in patients with heart disease. Early enteral nutrition should be attempted if the oral route cannot be used. When cardiac function is severely compromised, enteral nutrition is feasible, but supplementation with parenteral nutrition is sometimes required. Sustained hyperglycemia in the first 24 hours in patients admitted for acute coronary syndrome, whether diabetic or not, is a poor prognostic factor for 30-day mortality. In critically-ill cardiac patients with stable hemodynamic failure, nutritional support of 20-25 kcal/kg/day is effective in maintaining adequate nutritional status. Protein intake should be 1.2-1.5 g/kg/day. Routine polymeric or high protein formulae should be used, according to the patient's prior nutritional status, with sodium and volume restriction according to the patient's clinical situation. The major energy source for myocytes is glutamine, through conversion to glutamate, which also protects the myocardial cell from ischemia in critical situations. Administration of 1 g/day of omega-3 (EPA+DHA) in the form of fish oil can prevent sudden death in the treatment of acute coronary syndrome and can also help to reduce hospital admission for cardiovascular events in patients with chronic heart failure.

Dopamine receptor 3 (DRD3) polymorphism and risk for migraine.

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.

Paraoxonase 1 (PON1) polymorphisms and risk for essential tremor.

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.