[Patients with mild cognitive impairment and a reduced CSF Aß1₋42 protein progress rapidly to Alzheimer's disease]. / Pacientes con deterioro cognitivo leve y reducción de la proteína Aß(1-42) en LCR evolucionan rápidamente a enfermedad de Alzheimer.

INTRODUCTION: Some studies have shown that CSF amyloid-beta 1-42 (Aß1₋42), total tau (T-tau) and tau phosphorylated at threonine 181 (P-tau(181p)) proteins are useful diagnostic markers for distinguishing between clinically stable mild cognitive impairment (MCI) patients and those who will develop Alzheimers disease (AD). Our objective was to test the ability of this technique to discriminate in our cohort of MCI patients, according to the clinical outcome, one year after the lumbar puncture. MATERIAL AND METHODS: A total of 36 MCI patients were included from the local hospital memory clinic. Using INNO-BIA Alzbio-3 reagents from Innogenetics, we measured CSF Aß1₋42, T-tau and P-tau(181p) proteins, and calculated the T-tau/Aß1₋42 y P-tau(181p)/Aß1₋42 ratios. This project was approved by the local ethics committee. RESULTS: One year after the lumbar puncture, 14 MCI patients (38%) developed AD. These patients had lower Aß1₋42 protein levels (285.3 vs 377 ng/ml, P<.02) and higher P-tau(181p)/Aß1₋42 ratio (0,25 vs 0,16, p<.02) than the clinically stable patients. CONCLUSIONS: Our MCI patients with lower Aß1₋42 protein levels and an increased P-tau(181p) /Aß1₋42 ratio progressed quickly to AD. These results may help to identify those MCI patients with a poorer prognosis.

Biomarkers of Alzheimer's disease in the cerebrospinal fluid of Spanish patients with mild cognitive impairment.

The study of biomarkers in the cerebrospinal fluid (CSF) of patients with mild cognitive impairment (MCI) is a technique used with increasing frequency in the early diagnosis of Alzheimers disease (AD). Our objectiv was to gain an own experience while evaluating the reliability, sensitivity, and reproducibility of this technique in Spanish patients. Thirty-seven patients with MCI and twenty-four control subjects were studied by means of AD biomarker analysis in CSF. xMAP Luminex and INNO-BIA Alzbio3 reagents of Innogenetics were used. The study variables assessed were levels of Aß(1-42), T-tau and P-tau(181p) proteins as well as the ratios of T-tau/Aß(1-42) and P-tau(181p)/Aß(1-42). Samples from nineteen patients were examined twice. Intra-class correlation coefficients for the three biomarkers used showed values higher than 0.95. We observed significant differences between the control group and the MCI groups. In the 6 months following lumbar puncture (LP), eleven (29%) patients with MCI developed AD. These patients showed significant lower levels in Aß(1-42) protein (276.35 ± 78 vs. 367.13 ± 123.49, P < 0.03) and higher ratios (T-tau/Aß(1-42) [0.38 ± 0.2 vs. 0.22 ± 0.14, P < 0.01] and P-tau(181p)/Aß(1-42) [0.27 ± 0.13 vs. 0.16 ± 0.1, P < 0.008]) to those in the same group who remained stable. We obtained similar results to those in the most recent reliable literature with our ROC curves, especially with our P-tau(181p) values and T-tau/Aß(1-42) ratio in order to differentiate between control and AD groups. Our experience showed that the analysis of CSF-AD biomarkers in patients with MCI is reliable, sensitive and reproducible. In our knowledge, this is the first experience in Spanish patients.

One-year prognosis of non-traumatic cortical subarachnoid haemorrhage: A prospective series of 34 patients. / Pronóstico al año de la hemorragia subaracnoidea cortical no traumática: Serie prospectiva de 34 pacientes.

INTRODUCTION: Cortical subarachnoid haemorrhage (cSAH) has multiple aetiologies. No prospective study has reported the long-term progression of the condition. The objective of this study is to describe the clinical and aetiological characteristics of patients with cSAH and to gain insight into prognosis. METHODS: We performed a prospective, observational, multi-centre study. Data on clinical and radiological variables were collected; during a one-year follow-up period, we recorded data on mortality, dependence, rebleeding, and the appearance of dementia. RESULTS: The study included 34 patients (mean age, 68.3 years; range, 27-89). The most frequent symptoms were headache and focal neurological deficits, which were frequently transient and recurrent. CT scans returned pathological findings in 28 patients (85%). Brain MRI scans were performed in 30 patients (88%), revealing acute ischaemia in 10 (29%), old haemorrhage in 7 (21%), and superficial siderosis in 2 (6%). Aetiology was identified in 26 patients (76.5%): causes were cerebral amyloid angiopathy in 8, ischaemic stroke in 5, vasculitis in 4, reversible posterior encephalopathy in 2, venous thrombosis in 2, reversible cerebral vasoconstriction syndrome in 2, carotid occlusion in 1, Marfan syndrome in 1, and meningeal carcinomatosis in 1. Three patients died during follow-up (2 due to causes related to the cause of cSAH). Three patients developed dementia, 3 had lobar haemorrhages, and one had a second cSAH. CONCLUSIONS: The most frequent causes of cSAH in our series were cerebral amyloid angiopathy, ischaemic stroke, and vasculitis. This type of haemorrhage has a worse prognosis than other non-aneurysmal cSAH. There are numerous possible causes, and prognosis depends on the aetiology. In elderly patients, intracranial haemorrhage is frequently associated with cognitive impairment.

[Bilateral papilloedema as the initial symptom of POEMS syndrome]. / Edema de papila bilateral como manifestación inicial de un síndrome de POEMS.

INTRODUCTION: Oedema of the papilla, or papilloedema, is usually due to intracranial hypertension, but can sometimes be the initial symptom of systemic diseases like Guillain-Barre syndrome, neurosarcoidosis, Leber's disease, Lyme disease or POEMS syndrome, among others. We report on a case that occurred at the Hospital General Universitario in Alicante, in which papilloedema was the initial symptom of POEMS syndrome. CASE REPORT: A 36-year-old female, with no relevant past history, who visited after suffering a left-side frontal oppressive headache for five days; onset was sudden, there was no concomitant nausea or vomiting, it did not get worse when Valsalva manoeuvres were performed and there were no other accompanying symptoms. The examination revealed nasal blurring in the visual field of the right eye and papilloedema in the left eye, hyperpigmentation of the skin on the face and upper chest area that respected creases in the skin, painful distal tactile hypaesthesia in the lower limbs and bilateral areflexia of Achilles' tendons and patellar hyperreflexia. After conducting a number of different complementary tests intracranial space-occupying lesions and intracranial hypotension were both ruled out and the patient was diagnosed with mixed-type sensory-motor chronic polyneuropathy in the upper limbs, and in the lower extremities with predominantly distal involvement, bilateral oedema of the papilla and skin photosensitivity. Two years later the patient had hepatomegaly, subclinical hypothyroidism and sclerodermiform alterations of the skin, which suggested a probable diagnosis of POEMS syndrome that was later confirmed by the presence of monoclonal component in blood and urine. CONCLUSIONS: Papilloedema is rarely seen as the initial symptom of POEMS syndrome, but it must be included in the differential diagnosis of this pathology due to the diagnostic and therapeutic implications it entails.

Pronóstico al año de la hemorragia subaracnoidea cortical no traumática: Serie prospectiva de 34 pacientes / One-year prognosis of non-traumatic cortical subarachnoid haemorrhage: A prospective series of 34 patients

Introducción: Las hemorragias subaracnoideas corticales (HSAc) tienen numerosas etiologías. No hay estudios prospectivos que indiquen su evolución a largo plazo. El objetivo de este trabajo es describir las características clínicas y etiológicas de los pacientes con HSAc y conocer su pronóstico.MétodosEstudio observacional, prospectivo y multicéntrico. Se recogieron variables clínicas y radiológicas, y se siguió la evolución al año, observando la mortalidad, dependencia, tasa de resangrado y aparición de demencia.ResultadosSe incluyeron 34 pacientes (edad media 68,3 años, rango 27-89). Los síntomas más frecuentes fueron el déficit neurológico focal, con frecuencia transitorio y de repetición, y la cefalea. El TAC fue patológico en 28 pacientes (85%). Se realizó RM cerebral en 30 pacientes (88%), con isquemia aguda en 10 (29%), sangrados antiguos en 7 (21%) y siderosis superficial en otros 2 (6%). Se encontró etiología en 26 pacientes (76,5%): angiopatía amiloide (n = 8), ictus isquémico (n = 5), vasculitis (n = 4), encefalopatía posterior reversible (n = 2), trombosis venosa (n = 2), síndrome de vasoconstricción cerebral reversible (n = 2), oclusión carotidea (n = 1), síndrome de Marfan (n = 1) y carcinomatosis meníngea (n = 1). Durante el seguimiento fallecieron 3 pacientes (en 2 de ellos relacionado con la causa de la HSAc). Tres pacientes desarrollaron una demencia, 3 presentaron un hematoma lobar y otro una nueva HSAc.ConclusionesEn nuestra serie las causas más frecuentes de HSAc fueron la angiopatía amiloide, el ictus isquémico y la vasculitis. La HSAc tiene peor pronóstico que otras HSA no aneurismáticas. Puede tener numerosas causas y su pronóstico depende de la etiología subyacente. En el anciano existe una frecuente asociación con hemorragia intracraneal y deterioro cognitivo. (AU)

Introduction: Cortical subarachnoid haemorrhage (cSAH) has multiple aetiologies. No prospective study has reported the long-term progression of the condition. The objective of this study is to describe the clinical and aetiological characteristics of patients with cSAH and to gain insight into prognosis.MethodsWe performed a prospective, observational, multi-centre study. Data on clinical and radiological variables were collected; during a one-year follow-up period, we recorded data on mortality, dependence, rebleeding, and the appearance of dementia.ResultsThe study included 34 patients (mean age, 68.3 years; range, 27-89). The most frequent symptoms were headache and focal neurological deficits, which were frequently transient and recurrent. CT scans returned pathological findings in 28 patients (85%). Brain MRI scans were performed in 30 patients (88%), revealing acute ischaemia in 10 (29%), old haemorrhage in 7 (21%), and superficial siderosis in 2 (6%). Aetiology was identified in 26 patients (76.5%): causes were cerebral amyloid angiopathy in 8, ischaemic stroke in 5, vasculitis in 4, reversible posterior encephalopathy in 2, venous thrombosis in 2, reversible cerebral vasoconstriction syndrome in 2, carotid occlusion in 1, Marfan syndrome in 1, and meningeal carcinomatosis in 1. Three patients died during follow-up (2 due to causes related to the cause of cSAH). Three patients developed dementia, 3 had lobar haemorrhages, and one had a second cSAH.ConclusionsThe most frequent causes of cSAH in our series were cerebral amyloid angiopathy, ischaemic stroke, and vasculitis. This type of haemorrhage has a worse prognosis than other non-aneurysmal cSAH. There are numerous possible causes, and prognosis depends on the aetiology. In elderly patients, intracranial haemorrhage is frequently associated with cognitive impairment. (AU)

[Delays before and after arrival at the hospital in the treatment of strokes]. / Retraso extrahospitalario e intrahospitalario en el tratamiento del ictus.

INTRODUCTION: Only a minority of patients with acute stroke are eligible for fibrinolysis, and the main reason for this is that time runs out and goes beyond the therapeutic window. The chief delay occurs prior to arrival at the hospital, but there is also a nosocomial delay, which has received far less attention. AIMS: The purpose of our study was to describe the data on delays occurring before and after arrival at the hospital in a sample of patients with acute stroke, and to analyse possible associated factors, including the overload on health care services in the Emergency department, an aspect that has not previously been evaluated. PATIENTS AND METHODS: Epidemiological data, times of delays before and after entering the hospital, means of transport used and the health care workload in the Emergency department of the day of admission were collected for all the stroke patients admitted to the Stroke Unit of the Hospital General Universitario de Alicante throughout the period under study. RESULTS: From an initial sample of 460 patients, 423 were finally included in the study, with a mean delay before and after admission to hospital of 3.99 and 2.36 hours, respectively. Use of an ambulance and the haemorrhagic and transient ischemic attack subtypes were linked to a shorter delay before reaching the hospital, and arrival during the night shift was the only factor associated to a longer delay once inside the hospital. CONCLUSIONS: In our environment, there is a need to establish strategies aimed at shortening the times stroke patients take to reach the hospital and the time that elapses before they are attended.

[Aseptic meningitis caused by the rupture of an epidermoid cyst]. / Meningitis aséptica causada por la ruptura de quiste epidermoide.

INTRODUCTION: Epidermoid cysts are rare tumours. The aseptic meningitis that comes about as a result of their rupture is frequent after tumour resection, although they may occasionally occur spontaneously. CASE REPORT: A 36-year-old male who had been submitted to surgery twice because of an epidermoid cyst in the cerebellopontine angle presented a month old history of clinical features consisting in high temperature, headache, a stiff neck and ataxia. After computerized tomography (CT) scans and a spinal tap had been performed because of the suspicion of meningitis, empirical antibiotic therapy was administered but no improvement was observed. Thus, the usual studies employed to diagnose aseptic meningitis were carried out. Magnetic resonance imaging (MRI) was performed and showed lesions that suggested tumorous recurrence and perilesional meningeal hyperenhancement. Corticoid therapy quickly lessened the symptoms and the patient was asymptomatic when discharged. A week later he returned with headaches and disorders affecting behaviour and memory. A CT scan was performed and revealed the presence of tetraventricular hydrocephalus, which required the introduction of ventriculoperitoneal drainage. Spinal MRI carried out two weeks later revealed perimedullar foci of hyperenhancement. CONCLUSIONS: We describe the case of a patient with aseptic meningitis brought on by the rupture of an epidermoid cyst, which followed a subacute course and responded to corticoid therapy in a spectacular manner. Nevertheless, the patient still went on to develop tetraventricular hydrocephalus. Spontaneous aseptic meningitis is rare and corticoids lower its development time, but hydrocephalus may occur as a complication due to upsets in the reabsorption of cerebrospinal fluid.

[Lamotrigine in refractory epilepsy]. / Lamotrigina en epilepsia refractaria.

INTRODUCTION: Lamotrigine (LTG) is a new antiepileptic drug indicated in all kinds of partial and generalised clonic-tonic seizures, both in monotherapy and polytherapy. Between 20 and 30% of epileptic patients have poor control over their seizures despite adequate treatment. AIMS: We report on our experience regarding the long-term efficacy and tolerability of LTG in refractory seizures. PATIENTS AND METHODS: We conducted a consecutive 10-year study of patients who began LTG therapy following poor control of their seizures, in spite of being treated with two or more antiepileptic drugs in monotherapy or in combination. Both their epidemiological and clinical data were collected for study. We studied the efficacy of the treatment, differentiating between remission (absence of seizures), improvement (reduction>50% of the seizures), inefficacy (reduction<50%), exacerbation (increase in seizures) and its tolerability (side effects and dropout). RESULTS: In all, data was collected from 39 patients, 18 males (46.2%), mean age 30.9 +/- 13.7 years; mean follow up time: 27.6 +/- 23.4 months. 43.7% presented cryptogenic epilepsy, in 28.5% it was symptomatic and in the remaining 28.5% it was idiopathic. EEG readings and neuroimaging scans were pathological in 53.8% and 43.6%, respectively. After beginning therapy with LTG, 33% remained free of seizures, 43.6% improved, in 18.3% it was seen to be ineffective and 5.1% got worse. Dropout rate was 56.4%:23.1% due to insufficient control over the seizures, 17.9% owing to side effects and 15.4% because of non-compliance. CONCLUSION: Treatment with LTG offers a high degree of efficacy in the control of seizures in patients with refractory epilepsy, although it is limited by a high dropout rate.

[Peripheral and optical myeloneuropathy in a folic acid deficient alcoholic patient]. / Mieloneuropatía periférica y óptica en un paciente alcohólico deficiente en ácido fólico.

INTRODUCTION: In Western countries, neurological disorders secondary to toxic nutritional problems usually present as isolated cases that are generally associated to identifiable causes (alcoholism, eating disorders, absorption disorders, use of medicines) that reduce the availability of basic nutrients, especially B group vitamins, but also folic acid (FA). The optic nerves and the peripheral axons are frequent target organs in this type of pathology, but leukoencephalopathy and spinal cord involvement may also appear, often in combination. CASE REPORT: We describe the case of a 38-year-old female smoker with a heavy alcohol habit, who developed a subacute clinical pattern of, predominantly axonal, sensitive peripheral polyneuropathy, with vegetative fibre involvement. She also presented involvement of the posterior spinal cord, which gave rise to an ataxic disorder in the gait, as well as a severe bilateral retrobulbar optic neuropathy. Likewise, she presented macrocytosis (MCV: 118) due to megaloblastosis. She was also found to have a FA deficit but a normal vitamin B12 metabolism. With the help of supplementary vitamins, stopping drinking and the regularisation of her diet, the patient presented progressive clinical improvement, and was able to walk without support at 3 months and almost completely recovered her sight, which was corroborated by an improvement in the studies of both visual and somatosensorial evoked potentials. CONCLUSIONS: In our community, alcoholism is a frequent cause of nutritional deficiencies, which lead to neurological problems. FA is one of the nutrients that become deficient in alcoholics. More and more descriptions are being reported of peripheral polyneuropathy, retrobulbular optic neuropathy, myelopathy or leukoencephalopathy associated to FA deficiency, above all in patients with a history of alcoholism.

[The value of orbit magnetic resonance imaging in the diagnosis of blindness caused by giant cell arteritis]. / Aportación de la resonancia magnética orbitaria al diagnóstico de la ceguera por arteritis de células gigantes.

INTRODUCTION: Giant cell arteritis (GCA) is a chronic vasculitis of middle-sized and large calibre vessels which occurs mainly in individuals aged over the age of 50. It chiefly affects the cranial branches of the arteries that originate in the aortic arch. Its most important characteristic symptoms include visual disorders, especially loss of sight; bilateral blindness, however, is infrequent. CASE REPORT: We describe the case of an 81-year-old female who visited because of sudden blindness and bilateral retroocular pain. The neurological exploration only revealed bilateral amaurosis, dilated pupils with the phenomenon of papillary escape, and no alterations to the ocular fundus. Laboratory tests showed a haemoglobin level of 12 mg/dL, ESR of 71 mm/hr and CRP of 2.3. Magnetic resonance imaging (MRI) and computerised tomography of the brain without intravenous contrast showed findings compatible with small vessel ischemic phenomena. Because a vasculitic process was suspected, orbit RMI was performed and revealed signal hyperintensity in the soft intraconal parts with respect to the extraocular muscles. A biopsy study of the left temporal artery was compatible with GCA. CONCLUSIONS: In cases of GCA with an atypical visual presentation, finding enhancement of the intraconal fat or of the optic nerve sheath in the RMI can support the suspicion of an arteritic process.

[Binocular diplopy as the presentation of a haematoma in the rectus inferior]. / Diplopía binocular como presentación de un hematoma del recto inferior.

INTRODUCTION: The presence of quick onset binocular diplopy makes it essential to carry out a comprehensive differential diagnosis. The most frequent causes in adults include vascular, post-traumatic, tumorous and myopathic pathologies. Yet, to perform a differential diagnosis we also have to take into account less common aetiologies such as demyelinating disease, carotid-cavernous fistulas and Tolosa Hunt syndrome, among others. We report the case of a patient who was admitted to our hospital because she presented an acute onset diplopy secondary to a spontaneous haematoma of the left rectus inferior. CASE REPORT: We describe the case of a 54-year-old female with a history of hypercholesterolemia, who was a smoker and allergic to iodine contrasts and who visited because of an acute onset diplopy accompanied by instability and pain in the left eye. The neurological examination revealed paresis of the extraocular muscles dependent on the left oculomotor nerve with left palpebral ptosis, paresis of the rectus inferior, with no involvement of the pupils. Other results of the exploration were within normal limits. A computerised axial tomography scan of the head showed a haemorrhage in the rectus inferior. Magnetic resonance images of the head revealed an increase in the volume of the left-side rectus inferior with signs of bleeding, and the rest of the complementary explorations were normal. The patient progressed favourably and the diplopy gradually disappeared. CONCLUSIONS: Spontaneous bleeding of the extraocular muscles, although infrequent, must be taken into account in the differential diagnosis of painful ophthalmoplegia with diplopy in patients with no underlying pathology, especially in the absence of other neurological disorders.

[Neurosonological findings in the carotid artery in a sample of patients with lacunar infarction]. / Hallazgos neurosonológicos carotídeos en una muestra de pacientes con infarto lacunar.

INTRODUCTION: Carotid stenosis has been reported as being associated to lacunar infarcts (LI) with variable frequency, but the aetiopathogenic relation between them is still subject to some controversy. AIMS: Our aim was to describe the prevalence of carotid disorders in a neurosonological study of a sample of patients with LI. PATIENTS AND METHODS: We analysed the results of the neurosonological study conducted on patients with clinical-radiological criteria of LI who were admitted to our Stroke Unit during the period of study. RESULTS: We studied 140 patients, and results were normal in only 42% of the cases. Stenosis > 50% was found in 10% of the cases and plaque without stenosis in 40.3% of the patients. In patients without plaque there was an increase in the tunica intima-media thickness in 7.2% of the cases. CONCLUSION: In most of the patients with LI there were anomalies in the study of the carotid performed using ultrasound scanning.

[Health care activity in a headache-specific clinic]. / Actividad asistencial en una consulta específica de cefalea.

INTRODUCTION: It is reckoned that headaches affect, at least once a year, around 90% of the population. The socioeconomic repercussion occasioned by this malady justifies the appearance in recent years of headache units. AIM: To conduct a descriptive epidemiological and health care study of the activity carried out in a headache-specific clinic. PATIENTS AND METHODS: All the relevant points from the histories of patients who visited our surgery over a period of two years were collected prospectively and consecutively. The different types of headaches were classified according to the 1988 IHS criteria. Both the symptomatic and the preventive treatment were analysed. RESULTS: In all, a total of 866 patients were found; 691 (79.8%) were females and the mean age was 39.8 +/- 15.9 years (range: 6-90 years); 208 (24%) had a history of migraine in the family; 399 (49.9%) were diagnosed as suffering from migraine: 256 (64.2%) had migraine without aura, 152 (19%) were diagnosed as having tension-type headache, and 218 (27.3%) presented chronic daily headache (CDH). The most frequently used symptomatic treatments were NSAI drugs (36.7%) and triptanes (28.4%). Amitriptyline (47.7%), beta-blockers (14.5%) and calcium antagonists (11.3%) were the main drugs used as preventive treatment. DISCUSSION: After several years' operation of our Headache Unit, we thought there was a need to analyse the population seen in the visits. The fact that the majority of our patients were middle-aged females matched our expectations. Although most of the patients were diagnosed as suffering from M, we also want to highlight the high proportion of cases of CDH, above all associated with the abuse of analgesics.

[Schwannoma of the hypoglossal nerve presenting as a syndrome of Collet-Sicard]. / Síndrome de Collet-Sicard como presentación de schwannoma del nervio hipogloso.

Collet-Sicard is a rare syndrome that consists of the palsy of all the lower four cranial nerves. We describe this entity in relation with a schwannoma of the hypoglossal nerve. A 45 year-old-patient was admitted to the hospital referring hoarseness and difficulty in swallowing for two weeks. On neurological examination, the patient exhibited palsy of the ninth, tenth, eleventh and twelfth nerves. This is a syndrome of Collet-Sicard. The cranial MRI revealed a small intracranial and extracranial tumor adjacent to the hypoglossal foramen. The tumor involved the jugular foramen and was moderately enhanced with gadolinium The patient underwent surgical removal. The pathologic examination of the surgical specimen confirmed the diagnosis of a schwannoma of the hypoglossal nerve. We have carried out a research of the Collet-Sicard syndrome and of its aetiology. Although schwannoma the hypoglossal nerve is a rare disorder we consider that this entity should be included in the differential diagnosis of the Collet-Sicard syndrome.

Pacientes con deterioro cognitivo leve y reducción de la proteína Aβ 1-42 en LCR evolucionan rápidamente a enfermedad de Alzheimer / Patients with mild cognitive impairment and a reduced CSF A_1-42 protein progress rapidly to Alzheimer’s disease

Introducción: En muchos artículos recientes, el análisis de las proteínas Aβ 1-42, tau total (T-tau) y tau fostorilada (P-tau) en LCR puede discriminar entre los pacientes con deterioro cognitivo leve (DCL) estables y aquellos otros que van a progresar a enfermedad de Alzheimer (EA). Nuestro objetivo fue comprobar la capacidad de estas proteínas del LCR para discriminar, entre nuestros pacientes DCL, según la evolución clínica en el año siguiente a la punción lumbar. Material y métodos: Se incluyó a 36 pacientes DCL amnésico (criterios de Petersen 2006) procedentes de la consulta de deterioro cognitivo del Hospital General de Alicante. Usando los reactivos INNO-BIA Alzbio-3 (Innogenetics), cuantificamos las proteínas Aβ1-42, T-tau, P-tau181p en LCR, y calculamos los cocientes T-tau/Aβ1-42 y P-tau181p/Aβ1-42. El estudio fue aprobado por el comité ético de investigación del Hospital General de Alicante. Resultados: En los 12 meses posteriores a la punción lumbar, 14 pacientes DCL (38%) evolucionaron a EA. Estos pacientes, presentaron menores niveles de Aβ1-42 (285,3 vs. 377,7 ng/ml, p<0,02), y un aumento en el valor del cociente P-tau181p/Aβ1-42 (0,25 vs. 0,16, p<0,02) que los pacientes que se mantuvieron estables. No hubo diferencias significativas en el resto de las variables estudiadas. Conclusiones: Nuestros pacientes DCL que presentaron niveles reducidos de la proteína Aβ1-42 y elevación del cociente P-tau181p/Aβ1-42 en LCR, evolucionaron rápidamente a EA. Estos resultados pueden ayudar a conseguir el objetivo de identificar de forma precoz a los pacientes DCL con peor pronóstico (AU)

Introduction: Some studies have shown that CSF amyloid-beta 1-42 (A_1-42), total tau (T-tau) and tau phosphorylated at threonine 181 (P-tau181p) proteins are useful diagnostic markers for distinguishing between clinically stable mild cognitive impairment (MCI) patients and those who will develop Alzheimer's disease (AD). Our objective was to test the ability of this technique to discriminate in our cohort of MCI patients, according to the clinical outcome, one year after the lumbar puncture. Material and methods: A total of 36 MCI patients were included from the local hospital memory clinic. Using INNO-BIA Alzbio-3 reagents from Innogenetics, we measured CSF A_1-42, T-tau and P-tau181p proteins, and calculated the T-tau/A_1-42 y P-tau181p/A_1-42 ratios. Thisproject was approved by the local ethics committee. Results: One year after the lumbar puncture, 14 MCI patients (38%) developed AD. These patients had lower A_ 1-42 protein levels (285.3 vs 377 ng/ml, P < .02) and higher P-tau181p/A_1-42 ratio (0,25 vs 0,16, p < .02) than the clinically stable patients. Conclusions: Our MCI patients with lower A_1-42 protein levels and an increased P-tau181p /A_1-42 ratio progressed quickly to AD. These results may help to identify those MCI patients with a poorer prognosis (AU)

Biomarcadores en el líquido cefalorraquídeo de pacientes con deterioro cognitivo leve: metaanálisis de su capacidad predictiva para el diagnóstico de la enfermedad de Alzheimer / Biomarkers in the cerebrospinal fluid of patients with mild cognitive impairment: a meta-analysis of their predictive capacity for the diagnosis of Alzheimer’s disease

Introducción. Varios estudios han descrito alteraciones en los biomarcadores del líquido cefalorraquídeo (proteínas Abeta- 42, T-tau y P-tau), tanto en la enfermedad de Alzheimer (EA) como en el deterioro cognitivo leve (DCL). Objetivo. Realizar un metaanálisis sobre la rentabilidad diagnóstica de esta técnica para la predicción de los pacientes con DCL que van a progresar a EA. Materiales y métodos. Tras una búsqueda en PubMed y Embase de los artículos publicados entre 1999 y septiembre de 2008, se incluyeron sólo estudios prospectivos para la revisión sistemática. Se estudió la sensibilidad y especificidad para cada biomarcador por separado y también de forma conjunta.Resultados. De los 12 estudios incluidos, 6 cuantificaron la proteína Abeta-42, 11 la proteína T-tau y 7 la proteína P-tau. En tres estudios se pudieron obtener los datos de los tres biomarcadores de forma combinada. La sensibilidad de la cuantificación de las proteínas T-tau y P-tau es del 82%, con una odds ratio diagnóstica de 12,09 (intervalo de confianza al 95%, C 95% = 7,71-18,99; p = 0,1) y 16,29 (IC 95% = 9,69-27,4; p = 0,9), respectivamente. La alteración de alguno de los tres biomarcadores tiene una especificidad del 87%, con una odds ratio diagnóstica de 35,97 (IC 95% = 7,8-164,6; p = 0,04). Conclusiones. La alteración aislada de los niveles de T-tau o P-tau en el líquido cefalorraquídeo es muy sensible para diferenciar entre los pacientes con DCL que van a desarrollar EA de los que van a permanecer estables. La normalidad de los tres biomarcadores es muy fiable para descartar la evolución a EA en pacientes con DCL (AU)

Introduction. Several studies have reported alterations in the cerebrospinal fluid biomarkers (Abeta-42, T-tau and P-tau proteins), both in Alzheimer’s disease (AD) and in mild cognitive impairment (MCI). Aim. To perform a meta-analysis of the diagnostic yield of this technique for the prediction of patients with MCI who are going to progress to AD. Materials and methods. A search was conducted in PubMed and Embase of papers published between 1999 and September 2008, and as a result only prospective studies were included for the systematic review. The sensitivity and specificity for each biomarker were studied separately and also jointly. Results. Of the 12 studies that were included, 6 quantified the Abeta-42 protein, 11 the T-tau protein and seven the P-tau protein. In three of the studies data was obtained from the three biomarkers in combination. The sensitivity of the quantification of the T-tau and P-tau proteins is 82%, with a diagnostic odds ratio of 12.09 (confidence interval 95%, CI 95% = 7.71-18.99; p = 0.1) and 16.29 (CI 95% = 9.69-27.4; p = 0.9), respectively. Alteration of any of the three biomarkers has a specificity of 87%, with a diagnostic odds ratio of 35.97 (CI 95% = 7.8-164.6; p = 0.04). Conclusions. The isolated alteration of T-tau or P-tau levels in cerebrospinal fluid is very sensitive for differentiating between patients with MCI who are going to develop AD and those who are going to remain stable. Normality of the three biomarkers is a very reliable way of ruling out the progression of AD in patients with MCI (AU)

Ataxia espinocerebelosa tipo 17. Descripción del primer caso en población española / No disponible

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