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OBJECTIVE: To determine the beta-amyloid precursor protein (betaAPP) isoforms ratio as a risk factor for Alzheimer's Disease and to assess its relationship with demographic and genetic variables of the disease. METHODS: Blood samples from 26 patients fulfilling NINCDS-ADRDA diagnostic criteria for AD and 46 healthy control subjects were collected for Western blotting for betaAPP. A ratio of betaAPP isoforms, in optical densities, between the upper band (130 Kd) and the lower bands (106-110 Kd) was obtained. Odds ratios were obtained to determine risk factor of this component. RESULTS: betaAPP ratio on AD subjects was lower than that of control subjects: 0.3662 +/- 0.1891 vs. 0.6769 +/- 0.1021 (mean +/- SD, p<0.05). A low betaAPP ratio (<0.6) showed an OR of 4.63 (95% CI 1.45-15.33). When onset of disease was taken into account, a betaAPP ratio on EOAD subjects of 0.3965 +/- 0.1916 was found vs. 0.3445 +/- 0.1965 on LOAD subjects (p>0.05). CONCLUSIONS: Altered betaAPP isoforms is a high risk factor for Alzheimer's disease, although it has no influence on the time of onset of the disease.

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INTRODUCTION: Recent studies indicate that decreased energy generation by mitochondria is a feature that is common across neurodegenerative diseases. PATIENTS AND METHODS: In order to obtain direct evidence that mitochondrial functioning is altered, we measured the hydrolytic activity of F0F1-ATPase and its capacity to generate a stable proton gradient in submitochondrial particles in 29 patients diagnosed with probable Alzheimer's disease (AD). Submitochondrial particles were obtained from platelets of patients with a diagnosis of probable AD and from clinically healthy controls. RESULTS: Data revealed that the hydrolytic activity of F0F1-ATPase increases significantly in patients with probable AD (41.7+/-4.3 nmol PO4 min-1[mg protein]-1, n=29) as compared to the control subjects (29.1+/-1.9 nmol PO4 min-1 [mg protein]-1, n=29). It is important to note that, in the male population with probable AD, we found that hydrolytic activity of F0F1-ATPase increased as cerebral deterioration progressed. We also detected a lower pH gradient in the submitochondrial particles of patients with probable AD (0.28+/-0.08 pH units, n=25) as compared to the controls (0.5+/-0.1 pH units, n=20). CONCLUSIONS: Overall, these data point to an alteration in the functioning of the enzyme.

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Introducción. Los estudios recientes indican que una disminución en la generación de energía de la mitocondria es una característica que unifica a las enfermedades neurodegenerativas. Pacientes y métodos. Para obtener evidencia directa que la función mitocondrial se altera, cuantificamos en 29 pacientes diagnosticados con probable enfermedad de Alzheimer (EA) la actividad hidrolítica de la F0F1-ATPasa y su capacidad para generar un gradiente estable de protones en partículas submitocondriales. Las partículas submitocondriales se obtuvieron de plaquetas de pacientes con diagnóstico probable de EA y de controles clínicamente sanos. Resultados. Los datos revelaron que la actividad hidrolítica de la F0F1-ATPasa se incrementa de manera significativa en los pacientes con la probable EA -41,7 ± 4,3 nmol PO4 min-1(mg proteína)-1, con n = 29- en comparación con los controles -29,1 ± 1,9 nmol PO4 min-1 (mg proteína)- 1, con n = 29-. De manera importante, encontramos que en la población masculina con probable EA, la actividad hidrolítica de la F0F1-ATPasa aumenta conforme progresa el deterioro cerebral. También detectamos un gradiente de pH menor en las partículas submitocondriales de los pacientes con probable EA (0,28 ± 0,08 unidades de pH, n = 25) comparados con los controles (0,5 ± 0,1 unidades de pH, n = 20). Conclusión. Estos datos, en conjunto, indican una alteración funcional en la enzima

Introduction. Recent studies indicate that decreased energy generation by mitochondria is a feature that is common across neurodegenerative diseases. Patients and methods. In order to obtain direct evidence that mitochondrial functioning is altered, we measured the hydrolytic activity of F0F1-ATPase and its capacity to generate a stable proton gradient in submitochondrial particles in 29 patients diagnosed with probable Alzheimer’s disease (AD). Submitochondrial particles were obtained from platelets of patients with a diagnosis of probable AD and from clinically healthy controls. Results. Data revealed that the hydrolytic activity of F0F1-ATPase increases significantly in patients with probable AD (41.7 ± 4.3 nmol PO4 min-1[mg protein]-1, n = 29) as compared to the control subjects (29.1 ± 1.9 nmol PO4 min-1 [mg protein]-1, n = 29). It is important to note that, in the male population with probable AD, we found that hydrolytic activity of F0F1-ATPase increased as cerebral deterioration progressed. We also detected a lower pH gradient in the submitochondrial particles of patients with probable AD (0.28 ± 0.08 pH units, n = 25) as compared to the controls (0.5 ± 0.1 pH units, n = 20). Conclusions. Overall, these data point to an alteration in the functioning of the enzyme

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INTRODUCTION: The noninvasive evaluation of the autonomic nervous system (ANS) has been developed in the last decades. The implementation of an specialized unit requires qualified personnel, adequate equipment, location and support. The purpose of the present review is to summarize some theorical and practical aspects of 11 years experience in an ANS Section within a Neurophysiology Department. DEVELOPMENT: During this time we have examined 4,082 patients, using the basic reflex screen in 58% of them with a mean of 100 minutes and 159 Euros per patient. When other types of tests were applied, the time consumed oscillated between 75 and 300 minutes. The patients age ranged from 1 to 91 years, 8% of children among them. From 4,082 patients, the screen was conclusive with some condition related to ANS in 34% of them. The most frequent cause of ANS evaluation was the existence of dizziness, loss of consciousness of unknown origin or syncopal episodes (72%). When patients had at least one spell, sincopal or not, the evaluation was positive in 43%. Patients came from Neurology (67%), Cardiology (8%), Otorhinolaryngology (8%), Endocrinology (7%), and other Departments (10%). CONCLUSION: The different disciplines dealing with autonomic functions promote the diverse origin of autonomic evaluation demand. We suggest the convenience of making an accurate estimation of tests, time and cost per patient, to achieve the best unit management.

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Introducción. Las técnicas de estudio del sistema nervioso autónomo (SNA) por métodos no invasivos se han desarrollado a lo largo de las últimas décadas. La puesta en marcha de una unidad específica requiere recursos humanos cualificados, infraestructura y equipamiento. El objetivo del presente trabajo es revisar aspectos teóricos y prácticos sobre la experiencia de 11 años de funcionamiento de una sección dedicada al estudio del SNA, implantada en un Servicio de Neurofisiología Clínica. Desarrollo. Se han atendido 4.082 pacientes a los que, con mayor frecuencia, se aplicó el estudio básico SNA (58 por ciento), en el que se invierte una media de 100 minutos, con un coste por proceso de 159 EUR. Cuando se utilizaron otras pruebas, el tiempo osciló entre 75 y 300 minutos. La edad de los pacientes es de 1-91 años, con un 8 por ciento de pacientes pediátricos. El estudio SNA resultó patológico en el 34 por ciento de los casos. El motivo de consulta más frecuente fue el relacionado con mareos y pérdida de conciencia de origen indeterminado o con clínica sincopal (72 por ciento). De los pacientes que habían sufrido al menos una pérdida de conciencia, sincopal o no, el estudio SNA resultó positivo en el 43 por ciento de los casos. Los pacientes se remitieron desde Neurología (67 por ciento), Cardiología (8 por ciento), Otorrinolaringología (8 por ciento), Endocrinología (7 por ciento) y otros (10 por ciento). Conclusiones. Las diferentes disciplinas involucradas con las funciones autonómicas son la causa de la diversidad de procedencia de las peticiones de estudio. Señalamos la conveniencia de llevar a cabo una imputación individualizada de pruebas, tiempo y coste por paciente (AU)

Introduction. The noninvasive evaluation of the autonomic nervous system (ANS) has been developed in the last decades. The implementation of an specialized unit requires qualified personnel, adequate equipment, location and support. The purpose of the present review is to summarize some theorical and practical aspects of 11 years experience in an ANS Section within a Neurophysiology Department. Development. During this time we have examined 4,082 patients, using the basic reflex screen in 58% of them with a mean of 100 minutes and 159 Euros per patient. When other types of tests were applied, the time consumed oscillated between 75 and 300 minutes. The patients age ranged from 1 to 91 years, 8% of children among them. From 4,082 patients, the screen was conclusive with some condition related to ANS in 34% of them. The most frequent cause of ANS evaluation was the existence of dizziness, loss of consciousness of unknown origin or syncopal episodes (72%). When patients had at least one spell, sincopal or not, the evaluation was positive in 43%. Patients came from Neurology (67%), Cardiology (8%), Otorhinolaryngology (8%), Endocrinology (7%), and other Departments (10%). Conclusion. The different disciplines dealing with autonomic functions promote the diverse origin of autonomic evaluation demand. We suggest the convenience of making an accurate estimation of tests, time and cost per patient, to achieve the best unit management (AU)

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